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16q24.3 microdeletion syndrome

1 associated gene
46 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

2q37 microdeletion syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

16q24.3 microdeletion 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:

16q24.3 microdeletion syndrome		2q37 microdeletion syndrome
	Synonym(s): - Del(16)(q24.3) - Monosomy 16q24.3		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		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: 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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538317


COMMON SIGNS	- Anteverted nares / nostrils - Autism / autistic disoders - Frontal bossing / prominent forehead - High arched eyebrows - High vaulted / narrow palate - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Upslanted palpebral fissures / mongoloid slanting palpebral fissures

16q24.3 microdeletion syndrome		2q37 microdeletion syndrome
	Very frequent - High forehead - Prominent / bat ears Frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Philtrum flat / large / featureless / absent cupidon bows - Pointed chin - Thrombocytopenia / thrombopenia Occasional - Abnormal implantation of hair - Astigmatism - Cardiomyopathy / hypertrophic / dilated - Chronic / relapsing otitis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Long face - Long philtrum - Macrocytic anemia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Myopia - Narrow forehead - Nystagmus - Preauricular / branchial tags / appendages - Proximally set thumb - Scoliosis - Solitary median incisor - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - Thick lips - Triangular face - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia		Very frequent - Hypotonia - 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 - Deepset eyes / enophthalmos - Depressed nasal bridge - Downturned mouth - Eczema - Generalized obesity - 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 - Syndactyly of toes - 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 - Tics / stereotypias - Tracheomalacia / tracheobronchomalacia