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Senior-Boichis syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Joubert syndrome with hepatic defect

1 OMIM reference -
3 associated genes
49 signs/symptoms

Senior-Boichis syndrome

Joubert syndrome with hepatic defect

TMEM67	(UniProt - OMIM)		CC2D2A	(UniProt - OMIM)
			RPGRIP1L	(UniProt - OMIM)
			TMEM67	(UniProt - OMIM)


COMMON GENES	TMEM67

Citations in the biomedical literature:

Senior-Boichis syndrome		Joubert syndrome with hepatic defect
	Synonym(s): - Boichis disease - Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit		Synonym(s): - COACH syndrome - Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis - Gentile syndrome - JS-H - Joubert syndrome with congenital hepatic fibrosis

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Joubert syndrome with hepatic defect
	Very frequent - Abnormal hepatic enzymes / transaminases - Apnea / sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital hepatic fibrosis - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrahepatic biliary tract atresia / obstruction - Oculomotor apraxia / dyspraxia - Respiratory rhythm disorder Frequent - Abnormal gait - Coloboma of iris - Coloboma of the optic nerve - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypereflexia - Long face - Mild visual loss / impaired visual acuity - Narrow forehead - Nystagmus - Renal disease / nephropathy - Retinoschisis / retinal / chorioretinal coloboma Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anteverted nares / nostrils - Chronic hepatic failure - Cirrhosis - Cleft lip and palate - Corpus callosum / septum pellucidum total / partial agenesis - Encephalocele / exencephaly - Hepatic / liver neoplasm / tumor / carcinoma / cancer - High arched eyebrows - High nasal bridge - Hydrocephaly - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Inguinal / inguinoscrotal / crural hernia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Multicystic kidney / renal dysplasia - Oral synechiae / abnormal frenulae - Portal hypertension - Postaxial polydactyly (hand) - Ptosis - Renal failure - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly - Strabismus / squint - Tremor
Senior-Boichis syndrome
(no data available)