Brooks-wisniewski-brown syndrome

Preferred Label : Brooks-wisniewski-brown syndrome;

Obsolete resource : true;

Moved to : 309590;

CISMeF acronym : MRXSBWB;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, brooks-wisniewski-brown type; MRXSBWB;

Inheritance : X-linked recessive;

Laboratory abnormalities : Increased serum lactate; Defect in oxidative phosphorylation;

Prefixed ID : 300612;

Details

Origin ID

300612;

UMLS CUI

C0796272;

Currated CISMeF NLP mapping
- Brooks-Wisniewski-Brown syndrome [DO Concept]
- Brooks-Wisniewski-Brown syndrome [MeSH concept]
- X-linked intellectual disability Brooks type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Brooks type [ORDO Disease]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Cerebral atrophy [HPO term]
- Cupped ear [HPO term]
- Decreased muscle mass [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- EEG abnormality [HPO term]
- Epicanthus inversus [HPO term]
- Esotropia [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pectus excavatum [HPO term]
- Poor coordination [HPO term]
- Posteriorly rotated ears [HPO term]
- Protruding ear [HPO term]
- Seizure [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Spastic diplegia [HPO term]
- Speech delay [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Brooks type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brooks-Wisniewski-Brown syndrome [MeSH concept]
- Brooks-Wisniewski-Brown syndrome [DO Concept]
- X-linked intellectual disability Brooks type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Brooks type [ORDO Disease]

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