methylmalonic acidemia +
digenic disease +

acrocallosal syndrome
AMED syndrome
autosomal recessive nonsyndromic deafness 1A
autosomal-mitochondrial sensorineural deafness
craniosynostosis 7
dyskeratosis congenita +
facioscapulohumeral muscular dystrophy 2
facioscapulohumeral muscular dystrophy 3
facioscapulohumeral muscular dystrophy 4
hereditary coproporphyria
hereditary hypophosphatemic rickets with hypercalciuria
iminoglycinuria
Joubert syndrome 15
Joubert syndrome 9
long QT syndrome 1
long QT syndrome 2
long QT syndrome 3
long QT syndrome 5
long QT syndrome 6
long QT syndrome 9
methylmalonic acidemia and homocysteinemia cblX type
methylmalonic acidemia cblA type
methylmalonic acidemia cblB type
methylmalonic acidemia due to transcobalamin receptor defect
methylmalonic aciduria and homocystinuria type cblD
methylmalonic aciduria and homocystinuria type cblE
methylmalonic aciduria and homocystinuria type cblF
methylmalonic aciduria and homocystinuria type cblG
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
ocular albinism with sensorineural deafness
oculocutaneous albinism type IB
Parkinson's disease 6
primary pulmonary hypertension
proteasome-associated autoinflammatory syndrome 1
proteasome-associated autoinflammatory syndrome 3
retinitis pigmentosa 7
short-rib thoracic dysplasia 7 with or without polydactyly
spinocerebellar ataxia type 17
Usher syndrome type 1D
Usher syndrome type 2C
Waardenburg syndrome type 2A