ODCs

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Multiple epiphyseal dysplasia, Al-Gazali type

1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Joubert syndrome with ocular defect

4 OMIM references -
6 associated genes
38 signs/symptoms

Multiple epiphyseal dysplasia, Al-Gazali type

Joubert syndrome with ocular defect

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


COMMON GENES	KIF7

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Al-Gazali type		Joubert syndrome with ocular defect
	Synonym(s): - Multiple epiphyseal dysplasia - macrocephaly - distinctive facies		Synonym(s): - JS-O - Joubert syndrome with retinopathy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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 - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Low set ears / posteriorly rotated ears

Multiple epiphyseal dysplasia, Al-Gazali type		Joubert syndrome with ocular defect
	Very frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Genu valgum - Hypertelorism - Joint / articular deformation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Pectus excavatum - Short neck - Spindle shaped fingers - Syndactyly of fingers / interdigital palm Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Generalized obesity		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 - Nystagmus 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 - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Encephalocele / exencephaly - High arched eyebrows - High nasal bridge - Hydrocephaly - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Polydactyly of toes - Ptosis - Retinoschisis / retinal / chorioretinal coloboma - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Tremor - Upper limb polydactyly / hexadactyly - Visual loss / blindness / amblyopia