ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

2 OMIM references -
2 associated genes
23 signs/symptoms

Multiple epiphyseal dysplasia, Al-Gazali type

Hydrolethalus

KIF7	(UniProt - OMIM)		HYLS1	(UniProt - OMIM)
			KIF7	(UniProt - OMIM)

Citations in the biomedical literature:

Multiple epiphyseal dysplasia, Al-Gazali type		Hydrolethalus
	Synonym(s): - Multiple epiphyseal dysplasia - macrocephaly - distinctive facies		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536079


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

Multiple epiphyseal dysplasia, Al-Gazali type		Hydrolethalus
	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 - Hydrocephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Polyhydramnios - Postaxial polydactyly (hand) - Prematurity - Stillbirth / neonatal death Frequent - Anomalies of nose and olfaction - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Laryngomalacia - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Structural anomalies of the respiratory system and diaphragm - Tracheal atresia / stenosis Occasional - Anencephaly / acrania - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Short limbs / micromelia / brachymelia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies