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ABHD5
- Cerebral Creatine Deficiency
TRIP11
- Achondrogenesis
- Spondyloepimetaphyseal Dysplasia, Strudwick Type
MYO5B
- Microvillus Inclusion Disease
CTSD
- Cln10 Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
COL2A1
- Spondyloepimetaphyseal Dysplasia, Strudwick Type
- Pectus Excavatum
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
ENAM
- Amelogenesis Imperfecta, Type Ib
MC2R
- Familial Glucocorticoid Deficiency
ASPM
- Microcephaly 4, Primary, Autosomal Recessive
CDK5RAP2
- Microcephaly 4, Primary, Autosomal Recessive
LTBP3
- Amelogenesis Imperfecta, Type Ib
STX3
- Microvillus Inclusion Disease
FAM83H
- Amelogenesis Imperfecta, Type Ib
MCPH1
- Microcephaly 4, Primary, Autosomal Recessive
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
- Pectus Excavatum
STIL
- Microcephaly 4, Primary, Autosomal Recessive
NHLRC2
- Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
CENPJ
- Microcephaly 4, Primary, Autosomal Recessive