| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
syndromic X-linked intellectual disability 14
|
mental retardation, X-linked, syndromic 14
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.
[-]
|
|
|
|
syndromic X-linked intellectual disability Cabezas type
|
MRXSC; mental retardation, X-linked, syndromic 15; ..
[+]
mental retardation, X-linked, syndromic 15; MRXSC; MRXS15; MRSS; mental retardation, X-linked, syndromic 15 (Cabezas type); X-linked mental retardation with short stature, hypogonadism, and abnormal gait; Cabezas syndrome; syndromic X-linked mental retardation 15; X-linked mental retardation with short stature
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23.
[-]
|
|
|
|
syndromic X-linked intellectual disability 94
|
mental retardation, X-linked 94; MRX94; MRXS29; sy..
[+]
MRXS29; MRX94; mental retardation, X-linked 94; syndromic X-linked intellectual disability due to GRIA3 anomalies; syndromic X-linked mental retardation Wu type; syndromic X-linked mental retardation 29
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
[-]
|
|
|
|
syndromic X-linked intellectual disability Raymond type
|
MRXSR; mental retardation, X-linked syndromic, Ray..
[+]
MRXSR; mental retardation, X-linked syndromic, Raymond type; X-linked syndromic intellectual developmental disorder Raymond type
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.
[-]
|
|
|
|
Christianson syndrome
|
mental retardation, microcephaly, epilepsy, and at..
[+]
mental retardation, microcephaly, epilepsy, and ataxia syndrome; MRXSCH; mental retardation, X-linked syndromic, Christianson type; X-linked Angelman-like syndrome; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome; X-linked intellectual disability, South African type
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.
[-]
|
|
|
|
syndromic X-linked intellectual disability Shashi type
|
MRXS11; mental retardation, X-linked, syndromic 11..
[+]
MRXS11; mental retardation, X-linked, syndromic 11, Shashi type; SMRXS; syndromic X-linked intellectual disability type 11; X-linked mental retardation Shashi type; Shashi X-linked mental retardation syndrome
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.
[-]
|
|
|
|
X-linked intellectual disability-psychosis-macroorchidism syndrome
|
MRXS13; mental retardation, X-linked, syndromic 13..
[+]
MRXS13; mental retardation, X-linked, syndromic 13; mental retardation with psychosis, pyramidal signs, and macroorchidism; PPM-X; X-linked mental retardation with spasticity; Lindsay-Burn syndrome; X-linked mental retardation 79
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
[-]
|
|
|
|
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
|
MRXS32; mental retardation, X-linked, syndromic 32..
[+]
MRXS32; mental retardation, X-linked, syndromic 32
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.
[-]
|
|
|
|
deafness-intellectual disability, Martin-Probst type syndrome
|
mental retardation, X-linked, syndromic, Martin-Pr..
[+]
mental retardation, X-linked, syndromic, Martin-Probst type; Martin-Probst syndrome
[-]
|
A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.
[-]
|
|
|
|
isolated microphthalmia 6
|
MCOP6; posterior nonsyndromic microphthalmia
|
An isolated microphthalmia characterized by autoso.. [+]An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
[-]
|
|
|
|
isolated microphthalmia 4
|
MCOP4
|
An isolated microphthalmia that has_material_basis.. [+]An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
[-]
|
|
|
|
isolated microphthalmia 5
|
microphthalmia-retinitis pigmentosa-foveoschisis-o..
[+]
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; MCOP5; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
[-]
|
An isolated microphthalmia characterized by autoso.. [+]An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
[-]
|
|
|
|
isolated microphthalmia 7
|
MCOP7
|
An isolated microphthalmia characterized by unilat.. [+]An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.
[-]
|
|
|
|
isolated microphthalmia 2
|
MCOP2
|
An isolated microphthalmia characterized by autoso.. [+]An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
[-]
|
|
|
|
isolated microphthalmia 1
|
MCOP1
|
An isolated microphthalmia that has_material_basis.. [+]An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32.
[-]
|
|
|
|
isolated microphthalmia 8
|
MCOP8
|
An isolated microphthalmia characterized by bilate.. [+]An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
[-]
|
|
|
|
isolated microphthalmia 3
|
MCOP3
|
An isolated microphthalmia characterized by clinic.. [+]An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.
[-]
|
1 articles
|
|
|
Pierson syndrome
|
microcoria-congenital nephrosis syndrome
|
A syndrome characterized by nephrotic syndrome wit.. [+]A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
[-]
|
|
|
|
patterned macular dystrophy 2
|
MDPT2; butterfly-shaped pigmentary maculary dystro..
[+]
MDPT2; butterfly-shaped pigmentary maculary dystrophy 2
[-]
|
A patterned macular dystrophy characterized by bil.. [+]A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.
[-]
|
|
|
|
patterned macular dystrophy 3
|
Martinique crinkled retinal pigment epitheliopathy..
[+]
Martinique crinkled retinal pigment epitheliopathy; MDPT3
[-]
|
A patterned macular dystrophy characterized by a '.. [+]A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.
[-]
|
|
|
|
patterned macular dystrophy 1
|
MDPT1; butterfly-shaped pigmentary maculary dystro..
[+]
MDPT1; butterfly-shaped pigmentary maculary dystrophy 1
[-]
|
A patterned macular dystrophy characterized by bil.. [+]A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21.
[-]
|
|
|
|
renal hypomagnesemia 5 with ocular involvement
|
Meier-Blumberg-Imahorn syndrome; bilateral macular..
[+]
Meier-Blumberg-Imahorn syndrome; bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome
[-]
|
A hypomagnesemia characterized by autosomal recess.. [+]A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
[-]
|
|
|
|
transient myeloproliferative syndrome
|
MST; TAM; transient abnormal myelopoiesis; transie..
[+]
MST; TAM; transient abnormal myelopoiesis; transient leurkemia of Down syndrome; transient myeloproliferative disease; transient leukemia; transient leukemia of Down syndrome
[-]
|
A myeloproliferative neoplasm characterized by leu.. [+]A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.
[-]
|
1 articles
|
|
|
Seckel syndrome 1
|
microcephalic primordial dwarfism I; SCKL1
|
A Seckel syndrome that has_material_basis_in homoz.. [+]A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.
[-]
|
1 articles
|
|
|
Seckel syndrome 2
|
microcephalic primordial dwarfism 2; SCKL2; Seckel..
[+]
microcephalic primordial dwarfism 2; SCKL2; Seckel-type dwarfism 2
[-]
|
A Seckel syndrome that has_material_basis_in homoz.. [+]A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.
[-]
|
1 articles
|
|
|
autosomal dominant intellectual developmental disorder 1
|
MRD1; autosomal dominant mental retardation 1; aut..
[+]
MRD1; autosomal dominant mental retardation 1; autosomal dominant non-syndromic intellectual disability 1
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 2
|
MRD2; autosomal dominant mental retardation 2; aut..
[+]
MRD2; autosomal dominant mental retardation 2; autosomal dominant non-syndromic intellectual disability 2
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 3
|
MRD3; autosomal dominant mental retardation 3; aut..
[+]
MRD3; autosomal dominant mental retardation 3; autosomal dominant non-syndromic intellectual disability 3
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 4
|
MRD4; autosomal dominant mental retardation 4; aut..
[+]
MRD4; autosomal dominant mental retardation 4; autosomal dominant non-syndromic intellectual disability 4
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 5
|
MRD5; autosomal dominant mental retardation 5; aut..
[+]
MRD5; autosomal dominant mental retardation 5; autosomal dominant non-syndromic intellectual disability 5
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 6
|
MRD6; autosomal dominant mental retardation 6; aut..
[+]
MRD6; autosomal dominant mental retardation 6; autosomal dominant non-syndromic intellectual disability 6
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 7
|
MRD7; autosomal dominant mental retardation 7; aut..
[+]
MRD7; autosomal dominant mental retardation 7; autosomal dominant non-syndromic intellectual disability 7; DYRK1A syndrome
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.
[-]
|
1 articles
|
|
|
autosomal dominant intellectual developmental disorder 8
|
MRD8; autosomal dominant non-syndromic intellectua..
[+]
MRD8; autosomal dominant non-syndromic intellectual disability 8; autosomal dominant mental retardation 8
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.
[-]
|
|
|
|
NESCAV syndrome
|
MRD9; autosomal dominant intellectual disability 9..
[+]
MRD9; autosomal dominant intellectual disability 9; autosomal dominant mental retardation 9; autosomal dominant non-syndromic intellectual disability 9; NESCAVS; neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 10
|
MRD10; autosomal dominant mental retardation 10; a..
[+]
MRD10; autosomal dominant mental retardation 10; autosomal dominant non-syndromic intellectual disability 10
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 11
|
MRD11; autosomal dominant mental retardation 11; a..
[+]
MRD11; autosomal dominant mental retardation 11; autosomal dominant non-syndromic intellectual disability 11
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.
[-]
|
|
|
|
Coffin-Siris syndrome 1
|
MRD12; autosomal dominant mental retardation 12; C..
[+]
MRD12; autosomal dominant mental retardation 12; CSS1; fifth digit syndrome
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 13
|
MRD13; mental retardation, autosomal dominant 13, ..
[+]
MRD13; mental retardation, autosomal dominant 13, with neuronal migration defects; autosomal dominant mental retardation 13; autosomal dominant non-syndromic intellectual disability 13
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31.
[-]
|
|
|
|
Coffin-Siris syndrome 2
|
MRD14; autosomal dominant mental retardation 14; C..
[+]
MRD14; autosomal dominant mental retardation 14; CSS2
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.
[-]
|
|
|
|
Coffin-Siris syndrome 3
|
MRD15; autosomal dominant mental retardation 15; C..
[+]
MRD15; autosomal dominant mental retardation 15; CSS3
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
[-]
|
|
|
|
Coffin-Siris syndrome 4
|
MRD16; autosomal dominant mental retardation 16; C..
[+]
MRD16; autosomal dominant mental retardation 16; CSS4
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
[-]
|
|
|
|
Schuurs-Hoeijmakers Syndrome
|
MRD17; autosomal dominant mental retardation 17; S..
[+]
MRD17; autosomal dominant mental retardation 17; SHMS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
[-]
|
|
|
|
GAND syndrome
|
MRD18; autosomal dominant mental retardation 18; a..
[+]
MRD18; autosomal dominant mental retardation 18; autosomal dominant intellectual developmental disorder 18; autosomal dominant non-syndromic intellectual disability 18
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 19
|
MRD19; autosomal dominant mental retardation 19; a..
[+]
MRD19; autosomal dominant mental retardation 19; autosomal dominant non-syndromic intellectual disability 19
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.
[-]
|
|
|
|
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
|
MRD20; mental retardation, autosomal dominant 20; ..
[+]
mental retardation, autosomal dominant 20; MRD20; autosomal dominant mental retardation 20
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.
[-]
|
1 articles
|
|
|
autosomal dominant intellectual developmental disorder 21
|
MRD21; autosomal dominant mental retardation 21; a..
[+]
MRD21; autosomal dominant mental retardation 21; autosomal dominant non-syndromic intellectual disability 21
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 22
|
MRD22; autosomal dominant mental retardation 22; a..
[+]
MRD22; autosomal dominant mental retardation 22; autosomal dominant non-syndromic intellectual disability 22
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44.
[-]
|
|
|
|
autosomal dominant intellectual developmental disorder 23
|
MRD23; autosomal dominant mental retardation 23; a..
[+]
MRD23; autosomal dominant mental retardation 23; autosomal dominant non-syndromic intellectual disability 23
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3.
[-]
|
|
|
|
Vulto-van Silfout-de Vries syndrome
|
MRD24; autosomal dominant mental retardation 24; a..
[+]
MRD24; autosomal dominant mental retardation 24; autosomal dominant non-syndromic intellectual disability 24; IDDISBAS; intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; VSVS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.
[-]
|
|
|
|
Xia-Gibbs Syndrome
|
MRD25; autosomal dominant mental retardation 25
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.
[-]
|
|
|
