ODCs

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2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Oculofaciocardiodental syndrome

1 OMIM reference -
1 associated gene
39 signs/symptoms

2q37 microdeletion syndrome

Oculofaciocardiodental syndrome

HDAC4

(UniProt - OMIM)

BCOR

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC4	(0.83)	BCOR

Citations in the biomedical literature:

2q37 microdeletion syndrome		Oculofaciocardiodental syndrome
	Synonym(s): - Albright hereditary osteodystrophy 3 - Albright hereditary osteodystrophy-like syndrome - Brachydactyly-intellectual deficit - Del(2)(q37) - Deletion 2q37 - Deletion 2q37-qter - Monosomy 2q37-qter		Synonym(s): - Cataract - microphthalmia - radiculomegaly - septal heart defect - OFCD syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare odontologic 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: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538317		External references: 1 OMIM reference - 2 MeSH references: C537465 / C537735


COMMON SIGNS	- Clinodactyly of fifth finger - High arched eyebrows - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Syndactyly of toes

2q37 microdeletion syndrome		Oculofaciocardiodental syndrome
	Very frequent - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Mid-facial hypoplasia / short / small midface - Round face Frequent - Abnormally placed nipples - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Frontal bossing / prominent forehead - Generalized obesity - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Metacarpal anomalies / Archibald's sign - Microcephaly - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Small foot - Small hand / acromicria - Supernumerary nipples / polythelia - Syndactyly of fingers / interdigital palm - Thick columella - Thin / hypoplastic ala nasi - Thin / retracted lips - Umbilical hernia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Autism / autistic disoders - Conductive deafness / hearing loss - Diaphragmatic hernia / defect / agenesis - Gastric / pyloric stenosis - Hyperactivity / attention deficit - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Multicystic kidney / renal dysplasia - Nephroblastoma / Wilms tumor - Obsessive-compulsive disorder - Short neck - Sleep and vigilance disorders - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia		Very frequent - Anomalies of teeth and dentition - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Bifid tip / cleft nose / supernumerary nose - Cardiac septal defect - Cataract / lens opacification - Delayed dentition / eruption of teeth / lack of eruption of teeth - Microcornea - X-linked dominant inheritance Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - High nasal bridge - Long philtrum - Narrow face - Radioulnar synostosis Occasional - Anomalies of ear and hearing - Coloboma of iris - Cubitus valgus - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Genu valgum - Glaucoma - Hearing loss / hypoacusia / deafness - Intestinal / gut / bowel malrotation - Lens dislocation / luxation / subluxation / ectopia lentis - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Patent ductus arteriosus - Ptosis - Pulmonary valve atresia / stenosis / narrowing - Retinal detachment - Scoliosis - Sensorineural deafness / hearing loss - Solitary median incisor - Thumb hypoplasia / aplasia / absence