Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies

Preferred Label : Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies;

Symbol : NEDDFSA;

CISMeF acronym : NEDDFSA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger MIZ-domain containing 1 gene (ZMIZ1, 607159.0001);

Prefixed ID : #618659;

Details

Origin ID

618659;

UMLS CUI

C5231448;

Genes related to phenotype
- Zinc finger miz-domain containing 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Aggressive behavior [HPO term]
- Amblyopia [HPO term]
- Astigmatism [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad hallux [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Coloboma [HPO term]
- Cone-shaped epiphysis [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duane anomaly [HPO term]
- Epicanthus [HPO term]
- Exaggerated cupid's bow [HPO term]
- Facial hypotonia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hallux valgus [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Long fingers [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Prominent ear helix [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Renal atrophy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short finger [HPO term]
- Short toe [HPO term]
- Smooth philtrum [HPO term]
- Tapered finger [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients