Zttk syndrome - CISMeF

Preferred Label : Zttk syndrome;

Symbol : ZTTKS;

CISMeF acronym : ZTTKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Zttk multiple congenital anomalies-mental retardation syndrome; Zhu-tokita-takenouchi-kim syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SON DNA-binding protein gene (SON, 182465.0001);

Prefixed ID : #617140;

Details

Origin ID

617140;

UMLS CUI

C4310696;

Automatic exact mappings (from CISMeF team)
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Zhu-Tokita-Takenouchi-Kim syndrome [MedDRA Preferred Term]
Genes related to phenotype
- Son dna-binding protein [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Absent gallbladder [HPO term]
- Aortic regurgitation [HPO term]
- Arachnoid cyst [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Breech presentation [HPO term]
- Broad eyebrow [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral visual impairment [HPO term]
- Cervical ribs [HPO term]
- Chronic diarrhea [HPO term]
- Craniosynostosis [HPO term]
- Curly hair [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to crawl [HPO term]
- Delayed ability to roll over [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dysplastic corpus callosum [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hemivertebrae [HPO term]
- High palate [HPO term]
- Horseshoe kidney [HPO term]
- Hyperextensible skin [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Intestinal atresia [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Neonatal hypotonia [HPO term]
- Optic atrophy [HPO term]
- Patent ductus arteriosus [HPO term]
- Periventricular leukomalacia [HPO term]
- Polyuria [HPO term]
- Prominent forehead [HPO term]
- Protruding ear [HPO term]
- Relative macrocephaly [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Sparse eyebrow [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Thin vermilion border [HPO term]
- Unilateral lung agenesis [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Zhu-Tokita-Takenouchi-Kim syndrome [MedDRA Preferred Term]

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