Khan-khan-katsanis syndrome

Preferred Label : Khan-khan-katsanis syndrome;

Symbol : 3KS;

CISMeF acronym : 3KS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3k syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the non-SMC condensin II complex subunit G2 gene NCAPG2, 608532.0001;

Prefixed ID : #618460;

Details

Origin ID

618460;

UMLS CUI

C5193110;

Genes related to phenotype
- Non-smc condensin II complex subunit g2 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Buphthalmos [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Clinodactyly [HPO term]
- Colpocephaly [HPO term]
- Congenital onset [HPO term]
- Corneal scarring [HPO term]
- Delayed ability to walk [HPO term]
- Dysphagia [HPO term]
- Epiblepharon [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hypertonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Peters anomaly [HPO term]
- Pigmentary retinopathy [HPO term]
- Postaxial polydactyly [HPO term]
- Renal hypoplasia [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Tented upper lip vermilion [HPO term]
- Triangular mouth [HPO term]
- Tricuspid regurgitation [HPO term]
- Vesicoureteral reflux [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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