Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Preferred Label : Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;

Symbol : NEDCAS;

CISMeF acronym : NEDCAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BRCA1-associated ATM activator 1 gene (BRAT1, 614506.0001);

Prefixed ID : #618056;

Details

Origin ID

618056;

UMLS CUI

C4748032;

Genes related to phenotype
- Brca1-associated atm activator 1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Absent speech [HPO term]
- Agitation [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad face [HPO term]
- Cerebellar atrophy [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysmetria [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Tented upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Tremor [HPO term]
- Truncal titubation [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Lethal neonatal spasticity-epileptic encephalopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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