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Diseases
Genes (589)
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SCN1A
Dravet Syndrome
Epileptic Encephalopathy, Early Infantile, 31
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
ATRX
Brachycephaly
Alpha-Thalassemia Mental Retardation Syndrome
MAN2B1
Mannosidosis, Alpha B, Lysosomal
SLC35D1
Schneckenbecken Dysplasia
KERA
Cornea Plana 2, Autosomal Recessive
TMC1
Deafness, Autosomal Dominant 36
GLIS3
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
SLC2A10
Arterial Tortuosity Syndrome
SH3PXD2B
Frank-Ter Haar Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
POU4F3
Deafness, Autosomal Dominant 15
COL9A1
Multiple Epiphyseal Dysplasia
PLAA
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
SOST
Craniodiaphyseal Dysplasia
Multiple Epiphyseal Dysplasia
BCL11A
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
CHD4
Sifrim-Hitz-Weiss Syndrome
TCF12
Brachycephaly
TWIST1
Brachycephaly