ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

KBG syndrome

2q37 microdeletion syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ANKRD11	(0.52)	HDAC4

Citations in the biomedical literature:

KBG syndrome		2q37 microdeletion syndrome
	Synonym(s): - Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia		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

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C537015		External references: 1 OMIM reference - 1 MeSH reference: C538317


COMMON SIGNS	- Absent / decreased / thin eyebrows - Intellectual deficit / mental / psychomotor retardation / learning disability - Round face - Short hand / brachydactyly - Short neck - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Syndactyly of fingers / interdigital palm

KBG syndrome		2q37 microdeletion syndrome
	Very frequent - Abnormal vertebral size / shape - Anomalies of the ribs - Autosomal dominant inheritance - Brachycephaly / flat occiput - Complete / partial macrodontia - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - EEG anomalies - Hypertelorism - Low hair line (back) - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Strabismus / squint Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Enamel anomaly - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hearing loss / hypoacusia / deafness - Pointed chin - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Mid-facial hypoplasia / short / small midface Frequent - Abnormally placed nipples - Anteverted nares / nostrils - Clinodactyly of fifth finger - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Frontal bossing / prominent forehead - Generalized obesity - High arched eyebrows - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Metacarpal anomalies / Archibald's sign - Microcephaly - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Small foot - Small hand / acromicria - Supernumerary nipples / polythelia - Syndactyly of toes - 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 - Sleep and vigilance disorders - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia