chronic pulmonary heart disease +
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
kyphoscoliotic heart disease
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 aciduria and homocystinuria type cblC
ocular albinism with sensorineural deafness
oculocutaneous albinism type IB
Parkinson's disease 6
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