Intellectual developmental disorder, X-linked, syndromic, nascimento type

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

Symbol : MRXSN;

CISMeF acronym : MRXSN; MRXS30;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXS30; Mental retardation, X-linked, syndromic 30; Mental retardation, X-linked, syndromic, nascimento type;

Description : The Nascimento type of X-linked syndromic mental retardation is characterized by 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. Female carriers have normal cognition, but may show subtle facial features (summary by Budny et al., 2010).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ubiquitin-conjugating enzyme E2A gene (UBE2A, 312180.0001);

Prefixed ID : #300860;

Details

Origin ID

300860;

UMLS CUI

C3275464;

Automatic exact mappings (from CISMeF team)
- UBE2A wt Allele [NCIt concept]
- X-linked intellectual disability, Nascimento type [ORDO Disease]
DO Cross reference
- syndromic X-linked intellectual disability Nascimento type [DO Concept]
Genes related to phenotype
- Ubiquitin-conjugating enzyme e2 a [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormal hair whorl [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Almond-shaped palpebral fissure [HPO term]
- Broad face [HPO term]
- Broad hallux [HPO term]
- Broad neck [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Dry skin [HPO term]
- Echolalia [HPO term]
- Hirsutism [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Hypointensity of cerebral white matter on MRI [HPO term]
- Increased body weight [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low posterior hairline [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Nail dystrophy [HPO term]
- Pes planus [HPO term]
- Poor speech [HPO term]
- Prominent supraorbital ridges [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Spotty hypopigmentation [HPO term]
- Synophrys [HPO term]
- Thin vermilion border [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Nascimento type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type [NCIt concept]

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