Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Preferred Label : Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum;

Symbol : NEDDFAC;

Type : Phenotype, molecular basis known;

Prefixed ID : #619480;

Details

Origin ID

619480;

UMLS CUI

C5551361;

Genes related to phenotype
- Spt16 homolog, facilitates chromatin remodeling subunit [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Atrioventricular canal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Broad nasal tip [HPO term]
- Chronic constipation [HPO term]
- Coarctation of aorta [HPO term]
- Cupped ear [HPO term]
- Cyst of the ductus choledochus [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Dermatographic urticaria [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Exaggerated cupid's bow [HPO term]
- Feeding difficulties [HPO term]
- Focal aware seizure [HPO term]
- Focal impaired awareness seizure [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Narrow mouth [HPO term]
- Neonatal onset [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Patent ductus arteriosus [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Scoliosis [HPO term]
- Sleep disturbance [HPO term]
- Spina bifida [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Tethered cord [HPO term]
- Thick vermilion border [HPO term]
- Thickened helices [HPO term]
- Thin corpus callosum [HPO term]
- Torticollis [HPO term]
- Unilateral facial palsy [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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