Seckel syndrome 2

Preferred Label : Seckel syndrome 2;

Symbol : SCKL2;

CISMeF acronym : SCKL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Seckel-type dwarfism 2; Microcephalic primordial dwarfism 2;

Description : Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinoblastoma-binding protein-8 gene (RBBP8, 604124.0002);

Prefixed ID : #606744;

Details

Origin ID

606744;

UMLS CUI

C1847572;

Automatic exact mappings (from CISMeF team)
- RB binding protein 8, endonuclease [ORDO Gene]
- RBBP8 wt Allele [NCIt concept]
- Seckel syndrome [ORDO Disease]
- symbol withdrawn SCKL2 [HGNC gene]
Currated CISMeF NLP mapping
- Seckel syndrome 2 [DO Concept]
- Seckel syndrome 2 [MeSH concept]
- seckel syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Seckel syndrome 2 [DO Concept]
Genes related to phenotype
- Retinoblastoma-binding protein 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Ectopic kidney [HPO term]
- Few cafe-au-lait spots [HPO term]
- Growth delay [HPO term]
- Heart murmur [HPO term]
- High pitched voice [HPO term]
- Hypospadias [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Mild global developmental delay [HPO term]
- Narrow forehead [HPO term]
- Prominent nose [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
Not associated HPO term(s)
- Sloping forehead [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 2 [MeSH concept]
- Seckel syndrome 2 [DO Concept]
- seckel syndrome 2 [MeSH Supplementary Concept]

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