Disorders: H

Disorders Alternate Names Genes Inheritance Pattern
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