Neurodevelopmental disorder with midbrain and hindbrain malformations

Preferred Label : Neurodevelopmental disorder with midbrain and hindbrain malformations;

Symbol : NEDMHM;

CISMeF acronym : NEDMHM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Rho guanine nucleotide exchange factor 2 gene (ARHGEF2, 607560.0001);

Prefixed ID : #617523;

Details

Origin ID

617523;

UMLS CUI

C4479613;

Currated CISMeF NLP mapping
- neurodevelopmental disorder with midbrain and hindbrain malformations [DO Concept]
DO Cross reference
- neurodevelopmental disorder with midbrain and hindbrain malformations [DO Concept]
Genes related to phenotype
- Rho guanine nucleotide exchange factor 2 [OMIM gene]
HPO term(s)
- Abnormality of visual evoked potentials [HPO term]
- Amblyopia [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frequent falls [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Hypoplasia of the pons [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Ptosis [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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