ODCs

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1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
4 associated genes
18 signs/symptoms

17p13.3 microduplication syndrome

2p21 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	PPM1B

Citations in the biomedical literature:

17p13.3 microduplication syndrome		2p21 microdeletion syndrome
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		Synonym(s): - 2p21 deletion - Del(2)(p21) - Monosomy 2p21

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal 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: autosomal recessive

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


COMMON SIGNS	- Frontal bossing / prominent forehead - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears

17p13.3 microduplication syndrome		2p21 microdeletion syndrome
	Very frequent - Broad nose / nasal bridge - High forehead - Hypertelorism - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Short neck Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Late puberty / hypogonadism / hypogenitalism - Long / thick / curved lashes / trichomegaly / polytrichia - Respiratory chain / mitochondrial anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hypocalcemia - Organic acid metabolism anomalies - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Fetal immobility / abnormal fetal movements - Hypoglycemia