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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
46,XX sex reversal 4
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SRXX4
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A 46,XX sex reversal that has_material_basis_in he.. [+]
A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
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46,XY sex reversal 6
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SRXY6; 46,XY gonadal dysgenesis, partial or comple..
[+]
SRXY6; 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related; 46,XY sex reversal, partial or complete, MAP3K1-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2.
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46,XY sex reversal 9
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SRXY9; 46,XY sex reversal, ZFPM2-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1.
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46,XY sex reversal 4
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SRXY4; 46,XY gonadal dysgenesis, partial or comple..
[+]
SRXY4; 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion; chromosome 9p24.3 deletion syndrome
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.
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46,XY sex reversal 3
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SRXY3; sex reversal, XY, with or without adrenal f..
[+]
SRXY3; sex reversal, XY, with or without adrenal failure; 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure; 46,XY sex reversal, partial or complete, NR5A1-related; disorder of sex development, 46,XY, NR5A1-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
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46,XY sex reversal 8
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SRXY8; male pseudohermaphroditism due to deficienc..
[+]
SRXY8; male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; TDD
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
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46,XY sex reversal 7
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SRXY7; 46,XY gonadal dysgenesis, partial or comple..
[+]
SRXY7; 46,XY gonadal dysgenesis, partial or complete, DHH-related; 46,XY sex reversal, partial or complete, DHH-related; GDXYM; gonadal dysgenesis, XY, male limited
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.
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46,XY sex reversal 10
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SRXY10; chromosome 17q24 deletion syndrome
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.
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46,XY sex reversal 5
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sex reversal, XY, CBX2-related; SRXY5; 46,XY gonad..
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SRXY5; sex reversal, XY, CBX2-related; 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
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46,XY sex reversal 2
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SRXY2; 46,XY sex reversal, DAX1-related; 46XY sex ..
[+]
SRXY2; 46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; DSS
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.
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46,XY sex reversal 1
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SRXY1; 46,XY gonadal dysgenesis, complete, SRY-rel..
[+]
SRXY1; 46,XY gonadal dysgenesis, complete, SRY-related; 46,XY sex reversal, SRY-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2.
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linear skin defects with multiple congenital anomalies 1
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syndromic microphthalmia type 7; syndromic microph..
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syndromic microphthalmia type 7; syndromic microphthalmia 7; MCOPS7; microphthalmia-dermal aplasia-sclerocornea syndrome; MIDAS syndrome; MLS syndrome; Microphthalmia with linear skin defect syndrome
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A syndromic microphthalmia characterized by unilat.. [+]
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2.
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X-linked spinal muscular atrophy 2
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spinal muscular atrophy with arthrogryposis; SMAX2..
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spinal muscular atrophy with arthrogryposis; SMAX2; X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2; infantile-onset X-linked spinal muscular atrophy
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A spinal muscular atrophy characterized by neonata.. [+]
A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.
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X-linked spinocerebellar ataxia 1
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SCAX1; X-linked progressive cerebellar ataxia
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An X-linked cerebellar ataxia characterized by hyp.. [+]
An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.
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X-linked spinocerebellar ataxia 2
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SCAX2; cerebellar ataxia with extrapyramidal invol..
[+]
SCAX2; cerebellar ataxia with extrapyramidal involvement early-onset
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An X-linked cerebellar ataxia characterized by inf.. [+]
An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
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X-linked spinocerebellar ataxia 3
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SCAX3; X-linked ataxia-deafness syndrome; X-linked..
[+]
SCAX3; X-linked ataxia-deafness syndrome; X-linked spinocerebellar ataxia type 3
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An X-linked cerebellar ataxia characterized by ons.. [+]
An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.
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X-linked spinocerebellar ataxia 4
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SCAX4; X-linked ataxia-dementia syndrome; X-linked..
[+]
SCAX4; X-linked ataxia-dementia syndrome; X-linked spinocerebellar ataxia type 4
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An X-linked cerebellar ataxia characterized by ata.. [+]
An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.
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X-linked spinocerebellar ataxia 5
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SCAX5; Spinocerebellar Ataxia, X-Linked 5; X-linke..
[+]
Spinocerebellar Ataxia, X-Linked 5; SCAX5; X-linked non progressive cerebellar ataxia
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An X-linked cerebellar ataxia characterized by neo.. [+]
An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1.
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autosomal recessive thrombophilia due to protein S deficiency
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severe hereditary thrombophilia due to congenital ..
[+]
severe hereditary thrombophilia due to congenital protein S deficiency; autosomal recessive thrombophilia due to congenital protein S deficiency; THPH6
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A protein S deficiency characterized by thrombosis.. [+]
A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
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immunodeficiency 14
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senescent T-cells-lymphadenopathy-immunodeficiency..
[+]
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation; activated PI3K-delta syndrome; APDS; IMD14; PASLI disease
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A combined T cell and B cell immunodeficiency char.. [+]
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
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immunodeficiency 22
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SCID due to LCK deficiency; severe combined immuno..
[+]
SCID due to LCK deficiency; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; IMD22
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A severe combined immunodeficiency characterized b.. [+]
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
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immunodeficiency 24
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severe combined immunodeficiency due to CTPS1 defi..
[+]
severe combined immunodeficiency due to CTPS1 deficiency; SCID due to CTPS1 deficiency; IMD24
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A severe combined immunodeficiency characterized b.. [+]
A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2.
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immunodeficiency 31B
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susceptibility to viral and mycobacterial infectio..
[+]
susceptibility to viral and mycobacterial infections due to STAT1 deficiency; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; autosomal recessive STAT1 deficiency; IMD31B; predisposition to severe viral infection due to STAT1 deficiency
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
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immunodeficiency 11A
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severe combined immunodeficiency due to CARD11 def..
[+]
severe combined immunodeficiency due to CARD11 deficiency; SCID due to CARD11 deficiency; CARD11 deficiency; IMD11A
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A severe combined immunodeficiency characterized b.. [+]
A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
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immunodeficiency 26
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severe combined immunodeficiency due to DNA-PKcs d..
[+]
severe combined immunodeficiency due to DNA-PKcs deficiency; SCID due to DNA-PKcs deficiency; IMD26; immunodeficiency 26, with or without neurologic abnormalities
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A severe combined immunodeficiency characterized b.. [+]
A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
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immunodeficiency 10
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STIM1 deficiency; CID due to STIM1 deficiency; com..
[+]
STIM1 deficiency; CID due to STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency; IMD10; immune dysfunction with T-cell inactivation due to calcium entry defect 2
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A T cell and NK cell immunodeficiency characterize.. [+]
A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.
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immunodeficiency 19
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severe combined immunodeficiency, T cell-negative,..
[+]
severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive; SCID T cell-negative, B cell-positive, NK cell-positive; IMD19; CD3-delta deficiency
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A severe combined immunodeficiency characterized b.. [+]
A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
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immunodeficiency 17
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SCID-like immunodeficiency, T cell-partial, B cell..
[+]
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive; CD3-gamma deficiency; IMD17; immunodeficiency 17, CD3 gamma deficient
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A T cell deficiency characterized by partial T-cel.. [+]
A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
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immunodeficiency 49
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severe combined immunodeficiency, T-cell negative,..
[+]
severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; IMD49
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A T cell deficiency characterized by T cell lympho.. [+]
A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
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immunodeficiency 52
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severe combined immunodeficiency due to LAT defici..
[+]
severe combined immunodeficiency due to LAT deficiency; IMD52
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A T cell deficiency characterized by onset of seve.. [+]
A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
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immunodeficiency 58
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severe combined immunodeficiency due to CARMIL2 de..
[+]
severe combined immunodeficiency due to CARMIL2 deficiency; IMD58
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A combined T cell and B cell immunodeficiency char.. [+]
A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.
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immunodeficiency 35
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susceptibility to infection due to TYK2 deficiency..
[+]
susceptibility to infection due to TYK2 deficiency; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis; IMD35; TYK2 deficiency; tyrosine kinase 2 deficiency
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
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deafness, dystonia, and cerebral hypomyelination
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severe motor and intellectual disabilities-sensori..
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severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
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A syndrome characterized by motor and intellectual.. [+]
A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28.
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X-linked severe congenital neutropenia
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SCNX; XLN
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A severe congenital neutropenia that has_material_.. [+]
A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
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X-linked spondyloepimetaphyseal dysplasia
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SEMDX; SEMD X-linked
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A spondyloepimetaphyseal dysplasia that has_materi.. [+]
A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
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Filippi syndrome
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Scott craniodigital syndrome with mental retardati..
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Scott craniodigital syndrome with mental retardation; type 1 syndactyly-microcephaly-intellectual disability syndrome
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A syndrome characterized by short stature, microce.. [+]
A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.
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X-linked spermatogenic failure 3
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SPGFX3
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A spermatogenic failure characterized by asthenote.. [+]
A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1.
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axial spondylometaphyseal dysplasia
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SMDAX; SMD axial
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A spondylometaphyseal dysplasia characterized by p.. [+]
A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.
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hereditary spastic paraplegia 80
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SPG80; spastic paraplegia 80 autosomal dominant
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A hereditary spastic paraplegia characterized by j.. [+]
A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.
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hereditary spastic paraplegia 86
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SPG86; spastic paraplegia 86 autosomal recessive
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A hereditary spastic paraplegia characterized by e.. [+]
A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.
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hereditary spastic paraplegia 82
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SPG82; spastic paraplegia 82 autosomal recessive
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A hereditary spastic paraplegia characterized by o.. [+]
A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
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hereditary spastic paraplegia 79B
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SPG79; SPG79B; spastic paraplegia 79 autosomal rec..
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SPG79B; SPG79; spastic paraplegia 79 autosomal recessive; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; autosomal recessive spastic paraplegia 79B
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A hereditary spastic paraplegia characterized by o.. [+]
A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.
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hereditary spastic paraplegia 85
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SPG85; spastic paraplegia 85 autosomal recessive
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A hereditary spastic paraplegia characterized by o.. [+]
A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21.
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hereditary spastic paraplegia 83
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SPG83; spastic paraplegia 83 autosomal recessive
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A hereditary spastic paraplegia characterized by p.. [+]
A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.
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hereditary spastic paraplegia 84
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SPG84; spastic paraplegia 84 autosomal recessive
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A hereditary spastic paraplegia characterized by o.. [+]
A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
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hereditary spastic paraplegia 78
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SPG78; spastic paraplegia 78 autosomal recessive
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A hereditary spastic paraplegia characterized pred.. [+]
A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.
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hereditary spastic paraplegia 81
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spastic paraplegia 81 autosomal recessive; SPG81; ..
[+]
SPG81; spastic paraplegia 81 autosomal recessive; autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; autosomal recessive complex SPG due to Kennedy pathway dysfunction
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A hereditary spastic paraplegia characterized by o.. [+]
A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.
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KINSSHIP syndrome
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Steichen-Gersdorf type mesomelic dysplasia; AFF3-r..
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Steichen-Gersdorf type mesomelic dysplasia; AFF3-related mesomelic dysplasia; KINS
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A syndrome characterized by developmental delay, i.. [+]
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2.
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