Zaki syndrome - CISMeF

Preferred Label : Zaki syndrome;

Symbol : ZKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microcephaly, progressive, with developmental delay, cupped ears, and dysmorphic features;

Prefixed ID : #619648;

Détails

Origin ID

619648;

UMLS CUI

C5562037;

Genes related to phenotype
- Wnt ligand secretion mediator [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad distal phalanx of finger [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Cupped ear [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed social development [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dilated fourth ventricle [HPO term]
- Ectrodactyly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Hyperextensible skin [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the phalanges of the toes [HPO term]
- Hypoplastic toenails [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intraventricular arachnoid cyst [HPO term]
- Long fingers [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Poor appetite [HPO term]
- Preauricular skin tag [HPO term]
- Renal agenesis [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Sparse eyebrow [HPO term]
- Sparse lateral eyebrow [HPO term]
- Sparse scalp hair [HPO term]
- Spastic gait [HPO term]
- Toe syndactyly [HPO term]
- Unsteady gait [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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