Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities

Preferred Label : Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities;

Symbol : NEDHISB;

Type : Phenotype, molecular basis known;

Prefixed ID : #619854;

Details

Origin ID

619854;

UMLS CUI

C5676975;

Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties [HPO term]
- Focal impaired awareness seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long hallux [HPO term]
- Obesity [HPO term]
- Seizure [HPO term]
- Severe temper tantrums [HPO term]
- Short nose [HPO term]
- Stereotypical hand wringing [HPO term]
- Tapered finger [HPO term]
- Tented upper lip vermilion [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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