Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Preferred Label : Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies;

Symbol : GDACCF;

CISMeF acronym : GDACCF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger protein 148 (ZNF148, 601897.0001);

Prefixed ID : #617260;

Details

Origin ID

617260;

UMLS CUI

C4310644;

Automatic exact mappings (from CISMeF team)
- ZNF148 wt Allele [NCIt concept]
Genes related to phenotype
- Zinc finger protein 148 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Coarse facial features [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed ability to walk [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic left heart [HPO term]
- Intellectual disability [HPO term]
- Low hanging columella [HPO term]
- Microcephaly [HPO term]
- Mitral stenosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Poor speech [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Respiratory insufficiency [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Triangular face [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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