Growth retardation, developmental delay, and facial dysmorphism

Preferred Label : Growth retardation, developmental delay, and facial dysmorphism;

Symbol : GDFD;

CISMeF acronym : GDFD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fat mass- and obesity-associated gene (FTO, 610966.0001);

Prefixed ID : #612938;

Détails

Origin ID

612938;

UMLS CUI

C2752001;

Automatic exact mappings (from CISMeF team)
- Lethal polymalformative syndrome, Boissel type [ORDO Disease]
Genes related to phenotype
- Fto alpha-ketoglutarate-dependent dioxygenase [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Cutis marmorata [HPO term]
- Dandy-Walker malformation [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intrauterine growth retardation [HPO term]
- Lissencephaly [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Obesity [HPO term]
- Patent ductus arteriosus [HPO term]
- Protruding tongue [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Skull asymmetry [HPO term]
- Small nail [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Lethal polymalformative syndrome, Boissel type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal polymalformative syndrome, Boissel type [ORDO Disease]
- growth retardation, developmental delay, coarse facies, and early death [MeSH Supplementary Concept]
- growth retardation, developmental delay, coarse facies, and early death [MeSH concept]

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