Kinsship syndrome

Preferred Label : Kinsship syndrome;

Symbol : KINS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesomelic dysplasia, steichen-gersdorf type; Mesomelic dysplasia, aff3-related;

Prefixed ID : #619297;

Details

Origin ID

619297;

UMLS CUI

C5543317;

Currated CISMeF NLP mapping
- Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome [ORDO Disease]
Genes related to phenotype
- Alf transcription elongation factor 3 [OMIM gene]
HPO term(s)
- Ankyloglossia [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brain atrophy [HPO term]
- Bruxism [HPO term]
- Bulbous nose [HPO term]
- Cerebral visual impairment [HPO term]
- Cervical ribs [HPO term]
- Chronic constipation [HPO term]
- Coxa valga [HPO term]
- Dandy-Walker malformation [HPO term]
- Death in infancy [HPO term]
- Dislocated radial head [HPO term]
- Downturned corners of mouth [HPO term]
- Enlarged cisterna magna [HPO term]
- Epileptic encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Fibular hypoplasia [HPO term]
- Focal-onset seizure [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long palpebral fissure [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Mesomelia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Polydactyly [HPO term]
- Primary microcephaly [HPO term]
- Renal hypoplasia [HPO term]
- Respiratory arrest [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Spastic tetraparesis [HPO term]
- Strabismus [HPO term]
- Supernumerary ribs [HPO term]
- Synophrys [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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