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Diseases
Genes (671)
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PQBP1
Ankylosis
Contracture
Renpenning's Syndrome
TTPA
Hammer Toe
Familial Isolated Vitamin E Deficiency
ARID1B
Coffin-Siris Syndrome 2
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
IFIH1
Singleton Merten Syndrome
SMARCE1
Coffin-Siris Syndrome 2
SOX11
Coffin-Siris Syndrome 2
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
SMARCB1
Pinealoblastoma
Coffin-Siris Syndrome 2
SMARCA4
Coffin-Siris Syndrome 2
Vascular Tumor
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
PLK4
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2