Seckel syndrome 7

Preferred Label : Seckel syndrome 7;

Symbol : SCKL7;

CISMeF acronym : SCKL7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ninein gene (NIN, 608684.0001);

Prefixed ID : #614851;

Details

Origin ID

614851;

UMLS CUI

C3553870;

Automatic exact mappings (from CISMeF team)
- Microcephalic primordial dwarfism, Dauber type [ORDO Disease]
- NIN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Seckel syndrome 7 [DO Concept]
DO Cross reference
- Seckel syndrome 7 [DO Concept]
Genes related to phenotype
- Ninein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central hypothyroidism [HPO term]
- Clinodactyly [HPO term]
- Delayed skeletal maturation [HPO term]
- Hip dysplasia [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Lumbar scoliosis [HPO term]
- Madelung deformity [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Primary amenorrhea [HPO term]
- Prominent nose [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Microcephalic primordial dwarfism, Dauber type [ORDO Disease]
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 7 [DO Concept]

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