WA 0852 26 – FindZebra Search

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ABHD5
- Cerebral Creatine Deficiency
TTPA
- Familial Isolated Vitamin E Deficiency
FGFR3
- Achondroplasia
GAMT
- Guanidinoacetate Methyltransferase Deficiency
BLM
- Bloom Syndrome
OPA3
- Costeff Syndrome
SLC17A5
- Salla Disease
PQBP1
- Renpenning's Syndrome
MED12
- Fg Syndrome
FAM20A
- Enamel-Renal Syndrome
GALE
- Galactose Epimerase Deficiency
IFIH1
- Singleton Merten Syndrome
ACTG2
- Berdon Syndrome
DMPK
- Myotonic Dystrophy
- Costeff Syndrome
FLNA
- Vascular Malformation
- Intestinal Neuronal Dysplasia
- Fg Syndrome
WDR45
- Neurodegeneration With Brain Iron Accumulation
MYH11
- Berdon Syndrome
ASS1
- Citrullinemia Type I
MYLK
- Berdon Syndrome
CTNS
- Cystinosis