|
Danon Disease |
Antopol disease, pseudoglycogenosis II, vacuolar cardiomyopathy and myopathy |
LAMP2 |
X-linked dominant |
|
Dermochondrocorneal Dystrophy |
DCCD, Francois syndrome |
? |
? |
|
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair |
DEDSSH, Loucks-Innes Syndrome |
DPH1 |
autosomal recessive |
|
Donnai-Barrow Syndrome |
DBS/FOAR syndrome, faciooculoacousticorenal syndrome, Holmes-Schepens syndrome |
LRP2 |
autosomal recessive |
|
Doyne Honeycomb Macular Dystrophy |
DHD, DHRD, Doyne Honeycomb Degeneration of the Retina, Malattia Leventinese, MLVT, radial drusen |
EFEMP1 |
autosomal dominant |
|
Duane Retraction Syndrome 1 |
DRS, Duane anomaly, Duane syndrome, DURS1, DUS, Stilling-Turk-Duane syndrome |
8q13 locus |
autosomal dominant |
|
Duane Retraction Syndrome 2 |
Duane anomaly, Duane retraction syndrome, DURS2, Stilling-Turk-Duane syndrome |
CHN1 |
autosomal dominant |
|
Duane Retraction Syndrome 3 |
DURS3 |
MAFB |
autosomal dominant |
|
Duane-Radial Ray Syndrome |
acrorenoocular syndrome, colobomas, DDRS, DR syndrome, Duane anomaly with radial ray abnormalities and deafness, IVIC syndrome, Okihiro syndrome |
SALL4 |
autosomal dominant |
|
Dysautonomia, Familial |
DYS, FD, hereditary sensory and autonomic neuropathy III, HSAN III, HSAN3, Riley-Day syndrome |
DST, IKBKAP |
autosomal recessive |
|
Dyskeratosis Congenita |
DCKB1, DCKB2, DCKB3, DCKB4, DKCA1 (Scoggins type), DKCA2, DKCA3, DKCX (Zinsser-Cole-Engman) |
DKC1, NOLA2, NOLA3, TERC, TERT, TINF2, WRAP53 |
autosomal dominant, autosomal recessive, X-linked recessive |
|
Dyskeratosis, Hereditary Benign Intraepithelial |
DKBI, HBID |
NLRP1 |
autosomal dominant |
|
Dystonia, Childhood Onset, With Optic Atrophy |
dystonia 29 childhood onset, DYTOABG |
MECR |
autosomal recessive |
