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Diseases
Genes (1140)
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ARID1B
Hypoglycemia
Coffin-Siris Syndrome 2
FMR1
Fragile X-Associated Tremor/ataxia Syndrome
ATR
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Coffin-Siris Syndrome 2
FLVCR1
Posterior Column Ataxia With Retinitis Pigmentosa
CENPJ
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
ARID1A
Coffin-Siris Syndrome 2
PCNT
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Coxa Vara
SYT2
Myasthenic Syndrome, Congenital, 21, Presynaptic
Foot Deformity
Hammer Toe
SMARCE1
Coffin-Siris Syndrome 2
SOX11
Coffin-Siris Syndrome 2
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
FGFR2
Hallux Varus
Dry Mouth
Joint Stiffness
Ankylosis
PTEN
Joint Stiffness
Hypoglycemia
Genu Recurvatum
Anisometropia
SMARCB1
Pinealoblastoma
Coffin-Siris Syndrome 2
SMARCA4
Coffin-Siris Syndrome 2
SMARCA1
Coffin-Siris Syndrome 2
ATRIP
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
TRAIP
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
CENPE
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2