ODCs

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Knobloch syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Joubert syndrome with ocular defect

4 OMIM references -
6 associated genes
38 signs/symptoms

Knobloch syndrome

Joubert syndrome with ocular defect

COL18A1	(UniProt - OMIM)	AHI1	(UniProt - OMIM)
		CEP41	(UniProt - OMIM)
		INPP5E	(UniProt - OMIM)
		KIF7	(UniProt - OMIM)
		TMEM231	(UniProt - OMIM)
		TMEM237	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL18A1	(0.63)	AHI1

Citations in the biomedical literature:

Knobloch syndrome		Joubert syndrome with ocular defect
	Synonym(s): - Knobloch-Layer syndrome - Retinal detachment - occipital encephalocele		Synonym(s): - JS-O - Joubert syndrome with retinopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537209		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Encephalocele / exencephaly - Hydrocephaly - Nystagmus - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Visual loss / blindness / amblyopia

Knobloch syndrome		Joubert syndrome with ocular defect
	Very frequent - Macular dystrophy / absence / hypoplasia of the macula - Myopia - Retinal detachment - Scalp / skull defect Frequent - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Occasional - Cataract / lens opacification - Depressed nasal bridge - Epicanthic folds - Gastric / pyloric stenosis - Hair and scalp anomalies - Hyperextensible joints / articular hyperlaxity - Lens dislocation / luxation / subluxation / ectopia lentis - Lymphangioma / lymphatic malformations - Mid-facial hypoplasia / short / small midface - Patent ductus arteriosus - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter - Vesicorenal / vesicoureteral reflux		Very frequent - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Oculomotor apraxia / dyspraxia - Respiratory rhythm disorder - Retinal / chorioretinal dysplasia / dystrophy Frequent - Abnormal gait - Failure to thrive / difficulties for feeding in infancy / growth delay - Long face - Narrow forehead Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of spine, vertebrae and pelvis - Anteverted nares / nostrils - Cleft lip and palate - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High arched eyebrows - High nasal bridge - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Low set ears / posteriorly rotated ears - Polydactyly of toes - Ptosis - Retinoschisis / retinal / chorioretinal coloboma - Scoliosis - Tremor - Upper limb polydactyly / hexadactyly