Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

Preferred Label : Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features;

Symbol : NEDMAGA;

CISMeF acronym : NEDMAGA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger swim domain-containing protein 6 gene (ZSWIM6, 615951.0002);

Prefixed ID : #617865;

Details

Origin ID

617865;

UMLS CUI

C4693405;

Genes related to phenotype
- Zinc finger swim domain-containing protein 6 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad columella [HPO term]
- Broad-based gait [HPO term]
- Constipation [HPO term]
- Delayed ability to walk [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Esotropia [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- Hyperactivity [HPO term]
- Hypertonia [HPO term]
- Hyporeflexia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Open mouth [HPO term]
- Progressive microcephaly [HPO term]
- Prominent forehead [HPO term]
- Prominent supraorbital ridges [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
- Thick eyebrow [HPO term]
- Tics [HPO term]
- Unsteady gait [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients