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Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Kleefstra syndrome due to 9q34 microdeletion

1 associated gene
35 signs/symptoms

Weaver syndrome

Kleefstra syndrome due to 9q34 microdeletion

EZH2	(UniProt - OMIM)		EHMT1	(UniProt - OMIM)
NSD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EZH2	(0.49)	EHMT1

Citations in the biomedical literature:

Weaver syndrome		Kleefstra syndrome due to 9q34 microdeletion
	Synonym(s): - Camptodactyly - overgrowth - unusual facies		Synonym(s): - 9q subtelomeric deletion syndrome - 9qSTDS - Kleefstra syndrome due to 9q subtelomeric deletion - Kleefstra syndrome due to del(9)(q34) - Kleefstra syndrome due to monosomy 9q34

	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: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536687		External references: No OMIM references No MeSH references


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Undescended / ectopic testes / cryptorchidia / unfixed testes

Weaver syndrome		Kleefstra syndrome due to 9q34 microdeletion
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertonia / spasticity / rigidity / stiffness - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Fine hair - Large hand - Philtrum deeply grooved - Restricted joint mobility / joint stiffness / ankylosis - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Pes cavus - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Wide space between 1st-2nd toes		Very frequent - Anteverted nares / nostrils - Brachycephaly / flat occiput - Everted lower lip - High arched eyebrows - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Short / small nose - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Cardiac septal defect - Downturned mouth - Generalized obesity - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcephaly - Mid-facial hypoplasia / short / small midface - Seizures / epilepsy / absences / spasms / status epilepticus - Synophris / synophrys Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Autism / autistic disoders - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Hearing loss / hypoacusia / deafness - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Renal failure - Sleep and vigilance disorders - Tetralogy of Fallot / trilogy of Fallot - Umbilical hernia - Vesicorenal / vesicoureteral reflux