Neu-laxova syndrome 1

Preferred Label : Neu-laxova syndrome 1;

Symbol : NLS1;

CISMeF acronym : NLS; NLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neu-laxova syndrome; NLS;

Description : Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by Manning et al., 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglycerate dehydrogenase gene (PHGDH, 606879.0007);

Prefixed ID : #256520;

Détails

Origin ID

256520;

UMLS CUI

C4551478;

DO Cross reference
- Neu-Laxova syndrome 1 [DO Concept]
Genes related to phenotype
- Phosphoglycerate dehydrogenase [OMIM gene]
HPO term(s)
- Ablepharon [HPO term]
- Absent eyelashes [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uterus [HPO term]
- Calcaneovalgus deformity [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Choroid plexus cyst [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased fetal movement [HPO term]
- Finger syndactyly [HPO term]
- Full lips [HPO term]
- Generalized edema [HPO term]
- Hydranencephaly [HPO term]
- Hypertelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint contracture of the hand [HPO term]
- Limb undergrowth [HPO term]
- Lissencephaly [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Microphthalmia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Polyhydramnios [HPO term]
- Prenatal growth deficiency [HPO term]
- Proptosis [HPO term]
- Pterygium [HPO term]
- Pulmonary hypoplasia [HPO term]
- Radial deviation of finger [HPO term]
- Renal agenesis [HPO term]
- Rocker bottom foot [HPO term]
- Short neck [HPO term]
- Short umbilical cord [HPO term]
- Sloping forehead [HPO term]
- Small placenta [HPO term]
- Spina bifida [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Thick lower lip vermilion [HPO term]
- Toe syndactyly [HPO term]
- Transposition of the great arteries [HPO term]
- Ventricular septal defect [HPO term]
- Yellow subcutaneous tissue covered by thin, scaly skin [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 [MeSH concept]
- Neu-Laxova syndrome [ORDO Disease]
- Neu-Laxova syndrome (disorder) [SNOMED CT concept]
- Neu-Laxova syndrome 1 [DO Concept]
- neu laxova syndrome [MeSH Supplementary Concept]
- neu-laxova syndrome [SNOMED Notion]

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