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2q32q33 microdeletion syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
22 signs/symptoms

2q32q33 microdeletion syndrome

ADULT syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SATB2	(0.73)	TP63

Citations in the biomedical literature:

2q32q33 microdeletion syndrome		ADULT syndrome
	Synonym(s): - 2q32-q33 microdeletion syndrome - Del(2)(q32) - Del(2)(q32q33) - Monosomy 2q32 - Monosomy 2q32-q33 - Monosomy 2q32q33		Synonym(s): - Acro-dermato-ungual-lacrimal-tooth syndrome - Pigment anomaly - ectrodactyly - hypodontia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin 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: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538052


COMMON SIGNS	- Fine hair - High nasal bridge - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Tooth shape anomaly

2q32q33 microdeletion syndrome		ADULT syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Hypotonia - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Thin / retracted lips Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Anteverted nares / nostrils - Autism / autistic disoders - Beaked nose - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Clinodactyly of fifth finger - Clinodactyly of toes - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long face - Long hand / arachnodactyly - Long philtrum - Microcephaly - Microstomia / little mouth - Sleep and vigilance disorders - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Strabismus / squint - Talipes-varus / metatarsal varus		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Chronic skin infection / ulcerations / ulcers / cancrum - Dry / squaly skin / exfoliation - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Excessive freckling - Nails anomalies - Oligodactyly / ectrodactyly of toes - Pigmented naevi / naevus pigmentosus / lentigo - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thin skin Frequent - Alopecia - Breast tissue / mammary gland absence / aplasia - Hypoplastic / absent nipples Occasional - Broad nose / nasal bridge - Face / facial anomalies