| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
autosomal dominant intellectual developmental disorder 26
|
MRD26; autosomal dominant mental retardation 26; a..
[+]
MRD26; autosomal dominant mental retardation 26; autosomal dominant non-syndromic intellectual disability 26
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.
[-]
|
|
|
|
Coffin-Siris syndrome 9
|
MRD27; autosomal dominant mental retardation 27; a..
[+]
MRD27; autosomal dominant mental retardation 27; autosomal dominant non-syndromic intellectual disability 27
[-]
|
An Coffin-Siris syndrome characterized by mild int.. [+]An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.
[-]
|
|
|
|
Helsmoortel-Van Der Aa Syndrome
|
MRD28; autosomal dominant mental retardation 28; H..
[+]
MRD28; autosomal dominant mental retardation 28; HVDAS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 29
|
MRD29; autosomal dominant mental retardation 29; a..
[+]
MRD29; autosomal dominant mental retardation 29; autosomal dominant non-syndromic intellectual disability 29
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 30
|
MRD30; autosomal dominant mental retardation 30; a..
[+]
MRD30; autosomal dominant mental retardation 30; autosomal dominant non-syndromic intellectual disability 30
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 31
|
MRD31; autosomal dominant mental retardation 31; a..
[+]
MRD31; autosomal dominant mental retardation 31; autosomal dominant non-syndromic intellectual disability 31
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.
[-]
|
|
|
|
Arboleda-Tham syndrome
|
MRD32; autosomal dominant mental retardation 32; A..
[+]
MRD32; autosomal dominant mental retardation 32; ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant non-syndromic intellectual disability 32
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 33
|
MRD33; autosomal dominant mental retardation 33; a..
[+]
MRD33; autosomal dominant mental retardation 33; autosomal dominant non-syndromic intellectual disability 33
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 34
|
MRD34; autosomal dominant mental retardation 34; a..
[+]
MRD34; autosomal dominant mental retardation 34; autosomal dominant non-syndromic intellectual disability 34
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 35
|
MRD35; autosomal dominant mental retardation 35; a..
[+]
MRD35; autosomal dominant mental retardation 35; autosomal dominant non-syndromic intellectual disability 35
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 36
|
MRD36; autosomal dominant mental retardation 36; a..
[+]
MRD36; autosomal dominant mental retardation 36; autosomal dominant non-syndromic intellectual disability 36
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.
[-]
|
|
|
|
White-Sutton syndrome
|
MRD37; autosomal dominant mental retardation 37; W..
[+]
MRD37; autosomal dominant mental retardation 37; WHSUS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 38
|
MRD38; autosomal dominant mental retardation 38; P..
[+]
MRD38; autosomal dominant mental retardation 38; PRELDS; psychomotor retardation, epilepsy, and language disability syndrome; autosomal dominant non-syndromic intellectual disability 38
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 39
|
MRD39; autosomal dominant mental retardation 39; a..
[+]
MRD39; autosomal dominant mental retardation 39; autosomal dominant non-syndromic intellectual disability 39
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 40
|
MRD40; autosomal dominant mental retardation 40; a..
[+]
MRD40; autosomal dominant mental retardation 40; autosomal dominant non-syndromic intellectual disability 40
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 41
|
MRD41; autosomal dominant mental retardation 41; a..
[+]
MRD41; autosomal dominant mental retardation 41; autosomal dominant non-syndromic intellectual disability 41
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 42
|
MRD42; autosomal dominant mental retardation 42; a..
[+]
MRD42; autosomal dominant mental retardation 42; autosomal dominant non-syndromic intellectual disability 42
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 43
|
MRD43; autosomal dominant mental retardation 43; a..
[+]
MRD43; autosomal dominant mental retardation 43; autosomal dominant non-syndromic intellectual disability 43
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 44
|
MRD44; autosomal dominant intellectual development..
[+]
MRD44; autosomal dominant intellectual developmental disorder 44 with microcephaly; autosomal dominant mental retardation 44; autosomal dominant non-syndromic intellectual disability 44
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.
[-]
|
|
|
|
spermatogenic failure 17
|
Male infertility due to oocyte activation failure; ..
[+]
Male infertility due to oocyte activation failure; SPGF17
[-]
|
A spermatogenic failure that is characterized by a.. [+]A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12.
[-]
|
|
|
|
spermatogenic failure 5
|
macrocephalic sperm head syndrome; male infertilit..
[+]
macrocephalic sperm head syndrome; male infertility due to macrozoospermia; male infertility with large-headed, multiflagellar, polyploid spermatozoa; infertility associated with multitailed spermatozoa and excessive DNA; SPGF5; Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid
[-]
|
A spermatogenic failure that is characterized by a.. [+]A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
[-]
|
|
|
|
distal myopathy 1
|
MPD1; Distal myopathy type 1; Gowers disease; Lain..
[+]
MPD1; Distal myopathy type 1; Gowers disease; Laing distal myopathy; Laing early-onset distal myopathy
[-]
|
A distal myopathy that is characterized by autosom.. [+]A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2.
[-]
|
|
|
|
hereditary lymphedema I
|
Milroy disease; congenital primary lymphedema; LMP..
[+]
Milroy disease; congenital primary lymphedema; LMPH1; PCL; Nonne-Milroy lymphedema; hereditary lymphedema type I
[-]
|
A hereditary lymphedema characterized by autosomal.. [+]A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
[-]
|
|
|
|
hereditary lymphedema II
|
Meige disease; Meige lymphedema; late-onset lymphe..
[+]
Meige lymphedema; Meige disease; late-onset lymphedema; lymphedema preacox; LMPH2
[-]
|
A hereditary lymphedema characterized by onset aro.. [+]A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.
[-]
|
|
|
|
progressive familial intrahepatic cholestasis 3
|
MDR3 deficiency; PFIC3; progressive familial intra..
[+]
MDR3 deficiency; PFIC3; progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
[-]
|
A progressive familial intrahepatic cholestasis ch.. [+]A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
[-]
|
|
|
|
autosomal dominant Emery-Dreifuss muscular dystrophy 2
|
muscular dystrophy with early contractures and car..
[+]
muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; Hauptmann-Thannhauser muscular dystrophy; scapuloilioperoneal atrophy with cardiopathy
[-]
|
An Emery-Dreifuss muscular dystrophy that has_mate.. [+]An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
[-]
|
|
|
|
X-linked Emery-Dreifuss muscular dystrophy 6
|
myopathy, X-linked, with postural muscle atrophy; ..
[+]
myopathy, X-linked, with postural muscle atrophy; EDMD6; Emery-Dreifuss muscular dystrophy 6, X-linked; XMPMA
[-]
|
An Emery-Dreifuss muscular dystrophy that has_mate.. [+]An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.
[-]
|
|
|
|
congenital disorder of glycosylation type IIa
|
mental retardation, growth retardation, prominent ..
[+]
mental retardation, growth retardation, prominent columella, and open mouth; Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG IIa; CDG2A; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa
[-]
|
A congenital disorder of glycosylation type II tha.. [+]A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
[-]
|
|
|
|
primary autosomal recessive microcephaly
|
MCPH
|
A primary microcephaly characterized by microcepha.. [+]A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
[-]
|
|
|
|
brachycephaly, trichomegaly, and developmental delay
|
MCINS; Macinnes syndrome; BTDD
|
A syndrome characterized by brachycephaly, trichom.. [+]A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14.
[-]
|
|
|
|
syndromic X-linked intellectual disability Pilorge type
|
MRXSP
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.
[-]
|
|
|
|
hyperphosphatasia with impaired intellectual development syndrome
|
Mabry disease; Mabry syndrome; HPMRS; hyperphospha..
[+]
Mabry syndrome; Mabry disease; HPMRS; hyperphosphatasia with mental retardation syndrome
[-]
|
An autosomal recessive intellectual developmental .. [+]An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.
[-]
|
|
|
|
retinal macular dystrophy
|
MCDR
|
A macular degeneration characterized by non-progre.. [+]A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees.
[-]
|
|
|
|
North Carolina macular dystrophy
|
MCDR1; central areolar pigment epithelial dystroph..
[+]
MCDR1; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; NCMD; progressive foveal dystrophy; retinal macular dystrophy 1
[-]
|
A retinal macular dystrophy characterized by limit.. [+]A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
[-]
|
|
|
|
retinal macular dystrophy 3
|
MCDR3
|
A retinal macular dystrophy that has_material_basi.. [+]A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1.
[-]
|
|
|
|
retinal macular dystrophy 4
|
MCDR4
|
A retinal macular dystrophy characterized by late-.. [+]A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21.
[-]
|
|
|
|
SMARCB1-deficient renal medullary carcinoma
|
medullary renal cell carcinoma; medullary carcinom..
[+]
medullary renal cell carcinoma; medullary carcinoma of the kidney; kidney medullary carcinoma; RMC; renal medullary carcinoma
[-]
|
A renal cell carcinoma that develops in the renal .. [+]A renal cell carcinoma that develops in the renal medulla.
[-]
|
|
|
|
retinal macular dystrophy 2
|
MCDR2
|
A retinal macular dystrophy characterized by slowl.. [+]A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32.
[-]
|
|
|
|
syndromic X-linked intellectual developmental disorder bain type
|
MRXSB; Mental Retardation, X-linked, Syndrome, Bai..
[+]
MRXSB; Mental Retardation, X-linked, Syndrome, Bain Type; HNRNPH2-related neurodevelopmental disorder; HNRNPH2-RNDD
[-]
|
A syndromic X-linked syndromic intellectual disabi.. [+]A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
[-]
|
|
|
|
Jansen's metaphyseal chondrodysplasia
|
Murk Jansen Type Metaphyseal Chondrodysplasia; Jan..
[+]
Murk Jansen Type Metaphyseal Chondrodysplasia; Jansen Disease; Jansen Metaphyseal Dysostosis; Jansen metaphyseal chondrodysplasia
[-]
|
A metaphyseal dysplasia that has_material_basis_in.. [+]A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
[-]
|
|
|
|
contractures, pterygia, and spondylocarpotarsal fusion syndrome
|
multiple pterygium syndrome
|
A syndrome that is characterized by permanently be.. [+]A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
[-]
|
|
|
|
Alpers-Huttenlocher syndrome
|
mitochondrial DNA depletion syndrome 4a; Alpers di..
[+]
mitochondrial DNA depletion syndrome 4a; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; progressive sclerosing poliodystrophy; Alper's syndrome
[-]
|
A mitochondrial DNA depletion syndrome that is cha.. [+]A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
[-]
|
|
|
|
Sengers syndrome
|
mitochondrial DNA depletion syndrome 10 (cardiomyo..
[+]
mitochondrial DNA depletion syndrome 10 (cardiomyopathic type); mitochondrial DNA depletion syndrome 10
[-]
|
A mitochondrial DNA depletion syndrome that is cha.. [+]A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
[-]
|
|
|
|
superior semicircular canal dehiscence
|
minor’s syndrome; canal dehiscence syndrome; sup..
[+]
minor’s syndrome; canal dehiscence syndrome; superior canal dehiscence; superior canal syndrome; superior semicircular canal dehiscence syndrome; third mobile window syndrome
[-]
|
An inner ear disease characterized by dehiscence i.. [+]An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.
[-]
|
|
|
|
primary mediastinal B-cell lymphoma
|
Mediastinal diffuse large-cell lymphoma with scler..
[+]
Mediastinal diffuse large-cell lymphoma with sclerosis; Large cell lymphoma of the mediastinum; Primary mediastinal clear cell lymphoma of B-cell type
[-]
|
A large B-cell lymphoma that is is characterized b.. [+]A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.
[-]
|
|
|
|
non-syndromic X-linked intellectual disability 106
|
MRX106; X-linked mental retardation 106
|
A non-syndromic X-linked intellectual disability t.. [+]A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
[-]
|
|
|
|
Phelan-McDermid syndrome
|
monosomy 22q13 syndrome; 22q13.3 deletion syndrome..
[+]
monosomy 22q13 syndrome; 22q13.3 deletion syndrome
[-]
|
A chromosomal deletion syndrome that has_material_.. [+]A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
[-]
|
|
|
|
familial adenomatous polyposis 2
|
MUTYH-associated polyposis; MUTYH-related attenuat..
[+]
MUTYH-associated polyposis; MUTYH-related attenuated FAP; MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated familial adenomatous polyposis
[-]
|
A familial adenomatous polyposis that has_material.. [+]A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
[-]
|
|
|
|
Larsen-like syndrome B3GAT3 type
|
multiple joint dislocations-short stature-craniofa..
[+]
multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome; Larsen-like syndrome, B3GAT3 type
[-]
|
A syndrome that is characterized by laxity, disloc.. [+]A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
[-]
|
|
|
|
congenital myopathy 1B
|
multiminicore disease
|
A congenital myopathy that is characterized by mul.. [+]A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
[-]
|
|
|
