Den hoed-de boer-voisin syndrome

Preferred Label : Den hoed-de boer-voisin syndrome;

Symbol : DHDBV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kohlschutter-tonz syndrome-like; KTZSL;

Prefixed ID : #619229;

Détails

Origin ID

619229;

UMLS CUI

C5543202;

Genes related to phenotype
- Special at-rich sequence-binding protein 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormality of dental morphology [HPO term]
- Abnormality of prenatal development or birth [HPO term]
- Abnormality of vision [HPO term]
- Absent speech [HPO term]
- Agitation [HPO term]
- Amelogenesis imperfecta [HPO term]
- Ataxia [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Caesarian section [HPO term]
- Carious teeth [HPO term]
- Constipation [HPO term]
- Death in adolescence [HPO term]
- Decreased body weight [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Developmental stagnation at onset of seizures [HPO term]
- Dilation of lateral ventricles [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drooling [HPO term]
- Dry skin [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EEG abnormality [HPO term]
- EEG with focal spike waves [HPO term]
- Enamel hypoplasia [HPO term]
- Focal myoclonic seizure [HPO term]
- Focal-onset seizure [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized clonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Generalized tonic seizure [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypermetropia [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Lactose intolerance [HPO term]
- Lower limb spasticity [HPO term]
- Maintenance insomnia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Myoclonus [HPO term]
- Nocturnal seizures [HPO term]
- Obesity [HPO term]
- Oligohydramnios [HPO term]
- Overweight [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature birth [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Short foot [HPO term]
- Sleep disturbance [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
- Stereotypical hand wringing [HPO term]
- Thick eyebrow [HPO term]
- Tremor [HPO term]
- Upper limb spasticity [HPO term]
- Ventouse delivery [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Widely spaced teeth [HPO term]
- Widow's peak [HPO term]
- Yellow-brown discoloration of the teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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