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ASL
- Argininosuccinic Aciduria
MYO5B
- Microvillus Inclusion Disease
TTPA
- Familial Isolated Vitamin E Deficiency
PMM2
- Pmm2 Deficiency
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
- Renpenning's Syndrome
MED12
- Fg Syndrome
FAM20A
- Enamel-Renal Syndrome
UBE3B
- Kaufman Oculocerebrofacial Syndrome
MC2R
- Familial Glucocorticoid Deficiency
IFIH1
- Singleton Merten Syndrome
FLNA
- Intestinal Neuronal Dysplasia
- Fg Syndrome
ASS1
- Argininosuccinic Aciduria
- Citrullinemia Type I
STX3
- Microvillus Inclusion Disease
CTNS
- Cystinosis
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MRAP
- Familial Glucocorticoid Deficiency
CILP
- Lumbar Disc Disease
COL9A3
- Lumbar Disc Disease
DDX58
- Singleton Merten Syndrome