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Diseases
Genes (215)
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CENPJ
Microcephaly 17, Primary, Autosomal Recessive
Seckel Syndrome 5
RBBP8
Seckel Syndrome 5
Jawad Syndrome
RUNX2
Cleidocranial Dysplasia
CLDN14
Deafness, Autosomal Recessive 29
ATR
Microcephaly 17, Primary, Autosomal Recessive
Seckel Syndrome 5
MYO7A
Deafness, Autosomal Dominant 11
LMNA
Cleidocranial Dysplasia
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
SLC20A2
Primary Familial Brain Calcification
CEP152
Microcephaly 17, Primary, Autosomal Recessive
Seckel Syndrome 5
SPRTN
Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome
ACTG1
Deafness, Autosomal Dominant 20
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive
PDGFRB
Primary Familial Brain Calcification
RTTN
Seckel Syndrome 5
Microcephalic Primordial Dwarfism Due To Rttn Deficiency
RELN
Lissencephaly 2
ASPM
Microcephaly 17, Primary, Autosomal Recessive
TTI2
Mental Retardation, Autosomal Recessive 39
IRX5
Hamamy Syndrome
QARS1
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
RAD50
Nijmegen Breakage Syndrome-Like Disorder