Li-ghorbani-weisz-hubshman syndrome

Preferred Label : Li-ghorbani-weisz-hubshman syndrome;

Symbol : LIGOWS;

CISMeF acronym : LIGOWS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine acetyltransferase 8 gene (KAT8, 609912.0001);

Prefixed ID : #618974;

Détails

Origin ID

618974;

UMLS CUI

C5436525;

Genes related to phenotype
- Lysine acetyltransferase 8 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Low-set ears [HPO term]
- Overlapping toe [HPO term]
- Patent ductus arteriosus [HPO term]
- Periventricular heterotopia [HPO term]
- Prominent nasal bridge [HPO term]
- Seizure [HPO term]
- Telecanthus [HPO term]
- Thick vermilion border [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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