Neu-laxova syndrome 2

Preferred Label : Neu-laxova syndrome 2;

Symbol : NLS2;

CISMeF acronym : NLS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoserine aminotransferase 1 gene (PSAT1, 610936.0003);

Prefixed ID : #616038;

Details

Origin ID

616038;

UMLS CUI

C4015019;

CISMeF manual mappings
- Neu-Laxova syndrome 2 [DO Concept]
DO Cross reference
- Neu-Laxova syndrome 2 [DO Concept]
Genes related to phenotype
- Phosphoserine aminotransferase 1 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Depressed nasal ridge [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Ichthyosis [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Sloping forehead [HPO term]
ORDO concept(s)
- Neu-Laxova syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neu-Laxova syndrome 2 [DO Concept]

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