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MCID: SYN091
MIFTS: 6
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Syndromic X-Linked Intellectual Disability Nascimento Type
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Nascimento Type:
Name: Syndromic X-Linked Intellectual Disability Nascimento Type
12
Classifications:
ICD10:
32
External Ids:
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Disease Ontology :
12
A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has material basis in mutation in the UBE2A gene on chromosome Xq24.
MalaCards based summary : Syndromic X-Linked Intellectual Disability Nascimento Type, also known as x-linked intellectual disability-nail dystrophy-seizures syndrome, is related to mental retardation, x-linked, syndromic, nascimento type. |
Diseases related to Syndromic X-Linked Intellectual Disability Nascimento Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Search
GEO
for disease gene expression data for Syndromic X-Linked Intellectual Disability Nascimento Type.
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