Luscan-lumish syndrome

Preferred Label : Luscan-lumish syndrome;

Symbol : LLS;

CISMeF acronym : LLS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SET domain-containing protein 2 gene (SETD2, 612778.0001);

Prefixed ID : #616831;

Details

Origin ID

616831;

UMLS CUI

C4085873;

Automatic exact mappings (from CISMeF team)
- Luscan-Lumish syndrome [ORDO Disease]
- SETD2 wt Allele [NCIt concept]
Genes related to phenotype
- Set domain-containing protein 2 [OMIM gene]
HPO term(s)
- Advanced ossification of carpal bones [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chiari malformation [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- High forehead [HPO term]
- Hirsutism [HPO term]
- Intellectual disability [HPO term]
- Irregular menstruation [HPO term]
- Long face [HPO term]
- Long foot [HPO term]
- Long nose [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Obesity [HPO term]
- Overgrowth [HPO term]
- Pointed chin [HPO term]
- Polycystic ovaries [HPO term]
- Polyphagia [HPO term]
- Prominent forehead [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Shyness [HPO term]
- Slurred speech [HPO term]
- Syringomyelia [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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