Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Preferred Label : Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies;

Symbol : NEDMABA;

CISMeF acronym : NEDMABA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sphingomyelin phosphodiesterase 4, neutral membrane gene (SMPD4, 610457.0001);

Prefixed ID : #618622;

Details

Origin ID

618622;

UMLS CUI

C5231431;

Genes related to phenotype
- Sphingomyelin phosphodiesterase 4, neutral membrane [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Bilateral cleft lip [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Bulbous nose [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar hypoplasia [HPO term]
- Death in infancy [HPO term]
- Deep philtrum [HPO term]
- Depressed nasal bridge [HPO term]
- Diabetes mellitus [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Low anterior hairline [HPO term]
- Lumbar hypertrichosis [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Neonatal respiratory distress [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature birth [HPO term]
- Progressive microcephaly [HPO term]
- Protruding ear [HPO term]
- Rocker bottom foot [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Simplified gyral pattern [HPO term]
- Single transverse palmar crease [HPO term]
- Sloping forehead [HPO term]
- Smooth philtrum [HPO term]
- Tented upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Wide intermamillary distance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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