|
Hallermann-Streiff Syndrome |
Francois dyscephalic syndrome, Hallermann-Streiff-Francois syndrome, HSS, oculomandibulofacial syndrome |
GJA1 |
autosomal dominant, autosomal recessive |
|
Harboyan Syndrome |
CDPD, CDPD1, corneal dystrophy and sensorineural deafness |
SLC4A11 |
autosomal recessive |
|
Heart and Brain Malformation Syndrome |
HBMS |
SMG9 |
autosomal recessive |
|
Heimler Syndrome 1 |
HMLR1, PBD1C, peroxisome biogenesis disorder 1C |
PEX1 |
autosomal recessive |
|
Heimler Syndrome 2 |
PBD4C, peroxisome biogenesis disorder 4C, sensorineural hearing loss with enamel hypoplasia and nail defects |
PEX6 |
autosomal recessive? |
|
HELIX Syndrome |
HELIX, hypohidrosis electrolyte imbalance lacrimal gland dysfunction ichthyosis xerostomia |
CLDN10 |
autosomal recessive |
|
Hereditary Mucoepithelial Dysplasia |
HMD, mucoepithelial dysplasia |
? |
autosomal dominant? |
|
Hermansky-Pudlak Syndrome |
delta storage pool disease, HPS |
AP3B1, AP3D1, BLOC1S3, DTNBP1, HPS3, HPS4, HPS5, HPS6, HSP8 |
autosomal recessive |
|
Histiocytic Dermatoarthritis |
|
? |
autosomal dominant? |
|
Homocystinuria, Beta-Synthase Deficiency |
CBS deficiency, classic homocystinuria, cystathionine beta-synthase deficiency |
CBS |
autosomal recessive |
|
Homocystinuria, MTHFR Deficiency |
methylenetetrahydrofolate reductase deficiency, MTHFR deficiency |
MTHFR |
autosomal recessive |
|
Hoyeraal-Hreidarsson Syndrome |
cerebellar hypoplasia with pancytopenia, HHS, prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia |
DKC1 |
X-linked recessive |
|
Hunter Syndrome (MPS II) |
Hunter syndrome, IDS deficiency, iduronate 2-sulfatase deficiency, MPS II, MPS2 |
IDS |
X-linked recessive |
|
Hurler and Scheie Syndromes (MPS IH, IS, IH/S) |
MPS I, MPS1-H, MPS1-HS, MPS1-S |
IDUA |
autosomal recessive |
|
Hyperferritinemia-Cataract Syndrome |
HHCS, hyperferritinemia with congenital cataracts |
FTL |
autosomal dominant |
|
Hyperoxaluria, Primary, Type I |
glycolic aciduria, HP1, oxalosis I, primary hyperoxaluria |
AGXT |
autosomal recessive |
|
Hyperphosphatasia with Mental Retardation Syndrome 6 |
glycosylphosphatidylinositol biosynthesis defect 12, GPIBD12 |
PIGY |
autosomal recessive |
|
Hypoparathyroidism, Familial Isolated |
autosomal dominant hypoparathyroidism, autosomal recessive hypoparathyroidism, FIH |
GCMB, PTH |
autosomal dominant, autosomal recessive |
|
Hypotonia, Infantile, with Psychomotor Retardation |
IHPMR |
CCDC174 |
autosomal recessive |
|
Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 1 |
IHPRF, IHPRF1 |
NALCN |
autosomal recessive |
|
Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 2 |
IHPRF2 |
UNC80 |
autosomal recessive |
|
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
IHPRF3 |
TBCK |
autosomal recessive |
|
Hypotrichosis with Juvenile Macular Degeneration |
HJMD, hypotrichosis with cone-rod dystrophy |
CDH3 |
autosomal recessive |
|
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
glomerulonephritis with sparse hair and telangiectases, HLTRS, telangiectatic membranoproliferative glomerulonephritis |
SOX18 |
autosomal dominant |
