Intellectual developmental disorder, X-linked, syndromic, chudley-schwartz type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, chudley-schwartz type;

Symbol : MRXSCS;

CISMeF acronym : MRXSCS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, X-linked, with seizures, hypogammaglobulinemia, and gait disturbance; Mental retardation, X-linked, syndromic, chudley-schwartz type;

Inheritance : X-linked recessive;

Prefixed ID : %300861;

Details

Origin ID

300861;

UMLS CUI

C3275471;

Automatic exact mappings (from CISMeF team)
- CUL4B wt Allele [NCIt concept]
- syndromic X-linked intellectual disability Cabezas type [DO Concept]
- syndromic X-linked intellectual disability Chudley-Schwartz type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Chudley-Schwartz type [DO Concept]
HPO term(s)
- Ataxia [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Global developmental delay [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, moderate [HPO term]
- Kyphosis [HPO term]
- Mandibular prognathia [HPO term]
- Peripheral neuropathy [HPO term]
- Poor speech [HPO term]
- Prominent glabella [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- Synophrys [HPO term]
- Unsteady gait [HPO term]
- X-linked recessive inheritance [HPO term]
See also inter- (CISMeF)
- Mental Retardation, X-Linked, Syndromic, Cabezas Type [NCIt concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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