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MYO5B
- Microvillus Inclusion Disease
SALL4
- Duane-Radial Ray Syndrome
GJA1
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
FMR1
- Fragile X-Associated Tremor/ataxia Syndrome
- Disinhibition
MMUT
- Methylmalonyl-Coa Mutase Deficiency
SLC17A5
- Salla Disease
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
RECQL4
- Baller–gerold Syndrome
MC2R
- Familial Glucocorticoid Deficiency
COL12A1
- Bethlem Myopathy
STX3
- Microvillus Inclusion Disease
CD55
- Protein Losing Enteropathy
MEN1
- Glucagonoma
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MRAP
- Familial Glucocorticoid Deficiency
FOXI1
- Enlarged Vestibular Aqueduct
KCNJ10
- Enlarged Vestibular Aqueduct