Seckel syndrome 4

Preferred Label : Seckel syndrome 4;

Symbol : SCKL4;

CISMeF acronym : SCKL4;

Type : Phenotype, molecular basis known;

Description : Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002). For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centromeric protein J gene (CENPJ, 609279.0004);

Prefixed ID : #613676;

Details

Origin ID

613676;

UMLS CUI

C3888212;

Automatic exact mappings (from CISMeF team)
- Seckel syndrome [ORDO Disease]
- centromere protein J [ORDO Gene]
- centromere protein J [HGNC gene]
- pericentrin [ORDO Gene]
- pericentrin [HGNC gene]
Currated CISMeF NLP mapping
- Seckel syndrome 4 [DO Concept]
DO Cross reference
- Seckel syndrome 4 [DO Concept]
Genes related to phenotype
- Centromeric protein j [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Decreased body weight [HPO term]
- High forehead [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Retrognathia [HPO term]
- Short stature [HPO term]
- Steep acetabular roof [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 4 [DO Concept]

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