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Kleefstra syndrome due to 9q34 microdeletion
1 associated gene
23 connected diseases
35 signs/symptoms
Disease Type of connection
Kleefstra syndrome due to a point mutation
Giant cell glioblastoma
Gliosarcoma
Anaplastic ependymoma
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Dedifferentiated liposarcoma
Dehydratase deficiency
Huntington disease
Isolated adermatoglyphia
Juvenile Huntington disease
Neurofibromatosis type 3
Spinocerebellar ataxia type 1
Well-differentiated liposarcoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Weaver syndrome
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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
EHMT1 Q9H9B1607001
Very frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Everted lower lip
- High arched eyebrows
- Hypertelorism
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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
- Undescended / ectopic testes / cryptorchidia / unfixed testes

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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Renal failure
- Sleep and vigilance disorders
- Tetralogy of Fallot / trilogy of Fallot
- Umbilical hernia
- Vesicorenal / vesicoureteral reflux