ODCs

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2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10

5q14.3 microdeletion syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

2q37 microdeletion syndrome

5q14.3 microdeletion syndrome

HDAC4

(UniProt - OMIM)

MEF2C

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC4	(0.9)	MEF2C

Citations in the biomedical literature:

2q37 microdeletion syndrome		5q14.3 microdeletion 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): - Del(5)(q14.3) - Monosomy 5q14.3

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: <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: C538317		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anteverted nares / nostrils - Autism / autistic disoders - Deepset eyes / enophthalmos - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Syndactyly of toes - Tics / stereotypias - Upslanted palpebral fissures / mongoloid slanting palpebral fissures

2q37 microdeletion syndrome		5q14.3 microdeletion syndrome
	Very frequent - Mid-facial hypoplasia / short / small midface - Round face Frequent - Abnormally placed nipples - Absent / decreased / thin eyebrows - Clinodactyly of fifth finger - Congenital cardiac anomaly / malformation / cardiopathy - 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 - 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 Occasional - 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 - Tracheomalacia / tracheobronchomalacia		Very frequent - Broad forehead - High forehead - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Short philtrum - Short / small nose - Structural anomalies of the nervous system Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Mouth held open - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Strabismus / squint - Thick / bushy eyebrows