Neurodevelopmental disorder with visual defects and brain anomalies

Preferred Label : Neurodevelopmental disorder with visual defects and brain anomalies;

Symbol : NEDVIBA;

CISMeF acronym : NEDVIBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hexokinase-1 gene (HK1, 142600.0006);

Prefixed ID : #618547;

Details

Origin ID

618547;

UMLS CUI

C5231404;

Genes related to phenotype
- Hexokinase 1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar palsy [HPO term]
- Bulbous nose [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Flat occiput [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hip dislocation [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Laryngotracheomalacia [HPO term]
- Limb hypertonia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Periventricular leukomalacia [HPO term]
- Pes planus [HPO term]
- Preauricular pit [HPO term]
- Respiratory tract infection [HPO term]
- Rod-cone dystrophy [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Torticollis [HPO term]
- Unilateral facial palsy [HPO term]
- Ventriculomegaly [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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