Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

Preferred Label : Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies;

Symbol : NMIHBA;

CISMeF acronym : NMIHBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PRUNE exopolyphosphatase 1 gene (PRUNE1, 617413.0001);

Prefixed ID : #617481;

Details

Origin ID

617481;

UMLS CUI

C4479566;

Currated CISMeF NLP mapping
- PRUNE1-related neurological syndrome [ORDO Disease]
- Prune exopolyphosphatase 1-related neurological syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Prune exopolyphosphatase 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clonus [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Delayed myelination [HPO term]
- Generalized hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Narrow palate [HPO term]
- Optic atrophy [HPO term]
- Plagiocephaly [HPO term]
- Profound global developmental delay [HPO term]
- Progressive [HPO term]
- Progressive flexion contractures [HPO term]
- Proptosis [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sloping forehead [HPO term]
- Spastic tetraparesis [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- PRUNE1-related neurological syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prune exopolyphosphatase 1-related neurological syndrome (disorder) [SNOMED CT concept]

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