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TP53
- Polyploidy
- Alopecia, Androgenetic, 1
- Disseminated Superficial Actinic Porokeratosis
- Li–fraumeni Syndrome
CHM
- Choroideremia
ABHD5
- Cerebral Creatine Deficiency
VPS33B
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
NF1
- Watson Syndrome
- Li–fraumeni Syndrome
- Neurofibromatosis
VIPAS39
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
SNAP29
- Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
GORAB
- Alopecia, Androgenetic, 1
- Prognathism, Mandibular
- Gerodermia Osteodysplastica
GNAS
- Progressive Osseous Heteroplasia
- Prognathism, Mandibular
PTEN
- Proteus-Like Syndrome
- Li–fraumeni Syndrome
- Prognathism, Mandibular
RYR1
- Malignant Hyperthermia
RAB3GAP1
- Warburg Micro Syndrome 3
CRB1
- Retinoschisis Of Fovea
- Pigmented Paravenous Chorioretinal Atrophy
RAC2
- Neutrophil Immunodeficiency Syndrome
LMNA
- Limb–girdle Muscular Dystrophy
CHEK2
- Li–fraumeni Syndrome
RAB18
- Warburg Micro Syndrome 3
RAB3GAP2
- Warburg Micro Syndrome 3
SGCG
- Limb–girdle Muscular Dystrophy