ODCs

Cytoscape Web

Click node...

17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 4

Miller-Dieker syndrome

1 OMIM reference -
3 associated genes
18 signs/symptoms

17p13.3 microduplication syndrome

Miller-Dieker syndrome

PAFAH1B1	(UniProt - OMIM)		HIC1	(UniProt - OMIM)
YWHAE	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


COMMON GENES	PAFAH1B1 YWHAE

Citations in the biomedical literature:

17p13.3 microduplication syndrome		Miller-Dieker syndrome
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		Synonym(s): - Lissencephaly due to 17p13.3 deletion - Monosomy 17p13.3 - Telomeric deletion 17p

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - 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: unknown Average age onset: neonatal/infancy 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: D054221


COMMON SIGNS	- Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - High forehead - Short / small nose

17p13.3 microduplication syndrome		Miller-Dieker syndrome
	Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microstomia / little mouth Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - 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 - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Anteverted nares / nostrils - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Polyhydramnios - Structural anomalies of the cardio-circulatory system Occasional - Ataxia / incoordination / trouble of the equilibrium - Omphalocele / exomphalos - Renal disease / nephropathy - Sacral sinus / dimple