ODCs

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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Microphthalmia, Lenz type

2 OMIM references -
2 associated genes
43 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Microphthalmia, Lenz type

HDAC6	(UniProt - OMIM)		BCOR	(UniProt - OMIM)
			NAA10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.83)	BCOR

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Microphthalmia, Lenz type
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - Lenz microphthalmia

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

	Classification (ICD10): (no data available)		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: x-linked dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

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


COMMON SIGNS	- Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Short stature / dwarfism / nanism

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Microphthalmia, Lenz type
	Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum		Very frequent - X-linked recessive inheritance Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Agenesis / hypoplasia / aplasia of kidneys - Camptodactyly of fingers - Cleft lip and palate - Clinodactyly of fifth finger - Coloboma of iris - Coloboma of the optic nerve - External ear anomalies - Glaucoma - Hypospadias / epispadias / bent penis - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Microcornea - Retinoschisis / retinal / chorioretinal coloboma - Syndactyly of fingers / interdigital palm - Thumb duplication / distal bifid thumb phalangeal bone - Tooth shape anomaly - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis Occasional - Auto-aggressivity / auto-mutilation - Cataract / lens opacification - Clavicle absent / abnormal - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Cryptophthalmia / ankyloblepharon / synblepharon - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hearing loss / hypoacusia / deafness - Kyphosis - Long rib cage / thorax - Lordosis - Narrow / sloping shoulders - Nystagmus - Preauricular / branchial tags / appendages - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Visual loss / blindness / amblyopia - Webbed neck / pterygium colli