Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

Preferred Label : Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities;

Symbol : NEDFASB;

Type : Phenotype, molecular basis known;

Prefixed ID : #619103;

Details

Origin ID

619103;

UMLS CUI

C5436821;

Genes related to phenotype
- Lysine acetyltransferase 5 [OMIM gene]
HPO term(s)
- Almond-shaped palpebral fissure [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysplastic corpus callosum [HPO term]
- Dysplastic pulmonary valve [HPO term]
- Epiblepharon [HPO term]
- Flat face [HPO term]
- Focal polymicrogyria [HPO term]
- Frequent temper tantrums [HPO term]
- Global developmental delay [HPO term]
- Head-banging [HPO term]
- High myopia [HPO term]
- Horseshoe kidney [HPO term]
- Hypermetropia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Recurrent urinary tract infections [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Sparse lateral eyebrow [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Thick lower lip vermilion [HPO term]
- Unilateral cleft lip [HPO term]
- Unilateral cleft palate [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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