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DYNC2H1
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
- Asphyxiating Thoracic Dysplasia
IFT80
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
- Asphyxiating Thoracic Dysplasia
ABHD5
- Cerebral Creatine Deficiency
CLN3
- Juvenile Neuronal Ceroid Lipofuscinosis
FXN
- Friedreich Ataxia
- Juvenile Neuronal Ceroid Lipofuscinosis
WDR34
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
- Asphyxiating Thoracic Dysplasia
WDR60
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
- Asphyxiating Thoracic Dysplasia
EDNRA
- Mandibulofacial Dysostosis With Alopecia
CREBBP
- Rubinstein-Taybi Syndrome 2
IFT140
- Asphyxiating Thoracic Dysplasia
GALT
- Galactose-1-Phosphate Uridylyltransferase Deficiency
TRPV4
- Metatropic Dysplasia
IFIH1
- Hepatitis E
- Singleton Merten Syndrome
KIF22
- Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
DSP
- Epidermolysis Bullosa, Lethal Acantholytic
TTC21B
- Asphyxiating Thoracic Dysplasia
AGGF1
- Klippel-Trenaunay-Weber Syndrome
WDR19
- Asphyxiating Thoracic Dysplasia
TPP1
- Juvenile Neuronal Ceroid Lipofuscinosis
EP300
- Rubinstein-Taybi Syndrome 2