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Weaver syndrome
1 OMIM reference -
2 associated genes
135 connected diseases
37 signs/symptoms
Disease Type of connection
5q35 microduplication syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Sotos syndrome
Acute promyelocytic leukemia
Amyotrophic lateral sclerosis
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Desmoplastic small round cell tumor
Extraskeletal myxoid chondrosarcoma
Estrogen resistance syndrome
Anaplastic ependymoma
46,XY partial gonadal dysgenesis
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Synovial sarcoma
Precursor T-cell acute lymphoblastic leukemia
Peripheral resistance to thyroid hormones
Ewing sarcoma
Extraskeletal Ewing sarcoma
17q11 microdeletion syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
ICF syndrome
Melanoma of soft part
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Autosomal dominant nonsyndromic intellectual deficit
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Bohring-Opitz syndrome
Cabezas syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autosomal recessive primary microcephaly
Cowden syndrome
Proteus syndrome
22q11.2 deletion syndrome
3-phosphoglycerate dehydrogenase deficiency
8p23.1 microdeletion syndrome
Acrokeratosis verruciformis of Hopf
Adult-onset distal myopathy due to VCP mutation
Aicardi-Goutières syndrome
Alveolar soft-part sarcoma
Angelman syndrome
Atrial septal defect, ostium secundum type
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant hyper-IgE syndrome
Autosomal dominant macrothrombocytopenia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive ataxia, Beauce type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive malignant osteopetrosis
Autosomal recessive myogenic arthrogryposis multiplex congenita
Baraitser-Winter syndrome
Behavioral variant of frontotemporal dementia
Capillary malformation - arteriovenous malformation
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Darier disease
Denys-Drash syndrome
Distal hereditary motor neuropathy type 2
Dyschromatosis symmetrica hereditaria
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Familial atrial fibrillation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial infantile bilateral striatal necrosis
Frasier syndrome
Frontotemporal dementia with motor neuron disease
Generalized resistance to thyroid hormone
Hereditary hypotrichosis with recurrent skin vesicles
Hypocalcemic vitamin D-resistant rickets
Idiopathic hypereosinophilic syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intellectual deficit, X-linked, Snyder type
Juvenile amyotrophic lateral sclerosis
Mandibulofacial dysostosis-microcephaly syndrome
Meacham syndrome
Miller-Dieker syndrome
Myxoid / round cell liposarcoma
Parkes Weber syndrome
Partial atrioventricular canal
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Precursor B-cell acute lymphoblastic leukemia
Progressive non-fluent aphasia
Proximal myotonic myopathy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Retinitis pigmentosa
Selective pituitary resistance to thyroid hormone
Semantic dementia
Single ventricular septal defect
Spastic paraplegia - Paget disease of bone
Split hand-split foot malformation
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Tetralogy of Fallot
Translocation renal cell carcinoma
Triose phosphate-isomerase deficiency
WAGR syndrome
Burkitt lymphoma
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Peripheral primitive neuroectodermal tumor
- Camptodactyly - overgrowth - unusual facies

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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
External references:
1 OMIM reference -
1 MeSH reference: C536687

Gene symbol UniProt reference OMIM reference
EZH2 Q15910601573
NSD1 Q96L73606681
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Advanced bone age
- Broad forehead
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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

- Broad foot
- Broad / bifid thumb
- Camptodactyly of fingers
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Inguinal / inguinoscrotal / crural hernia
- Large hand
- Philtrum deeply grooved
- Restricted joint mobility / joint stiffness / ankylosis
- Round face

- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperextensible joints / articular hyperlaxity
- Micropenis / small penis / agenesis
- Pes cavus
- Scoliosis
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes