Coffin-siris syndrome 3

Preferred Label : Coffin-siris syndrome 3;

Symbol : CSS3;

CISMeF acronym : CSS3; MRD15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD15; Mental retardation, autosomal dominant 15;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, 601607.0012);

Prefixed ID : #614608;

Détails

Origin ID

614608;

UMLS CUI

C3553248;

Automatic exact mappings (from CISMeF team)
- Coffin-Siris syndrome 3 [DO Concept]
- chondroitin sulfate synthase 3 [HGNC gene]
DO Cross reference
- Coffin-Siris syndrome 3 [DO Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hirsutism [HPO term]
- Hypertrichosis [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long eyelashes [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Thick eyebrow [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
See also inter- (CISMeF)
- SMARCB1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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