MRXSMP
MCID: MNT146
MIFTS: 34
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Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (MRXSMP)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:
Characteristics:Orphanet epidemiological data:58
deafness-intellectual disability syndrome, martin-probst type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
x-linked recessive
Miscellaneous:
three males in 1 family have been reported (last curated august 2012) HPO:31
mental retardation, x-linked, syndromic, martin-probst type:
Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Mental retardation, X-linked, syndromic, Martin-Probst type: A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Martin-Probst Type, also known as martin-probst deafness-mental retardation syndrome, is related to sensorineural hearing loss and retinitis pigmentosa. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include eye, kidney and skin, and related phenotypes are dental malocclusion and wide nasal bridge Disease Ontology : 12 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. |
Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:58 31 (show all 38)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300519 |
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Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:
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MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:40
Eye,
Kidney,
Skin
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Articles related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:
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ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:6
UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:73
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GEO
for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type.
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Biological processes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type according to GeneCards Suite gene sharing:
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