Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

Autosomal dominant

Hereditary arginine vasopressin deficiency

Autosomal dominant, Autosomal recessive, X-linked dominant

Childhood

Hereditary retinoblastoma

Autosomal dominant

Infancy, Neonatal

Hermansky-Pudlak syndrome due to AP-3 deficiency

Autosomal recessive

Neonatal

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Autosomal recessive

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Autosomal recessive

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Autosomal recessive

Infancy, Neonatal

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

Autosomal recessive

Infancy, Neonatal

Hurler syndrome

Autosomal recessive

Infancy, Neonatal

Hurler-Scheie syndrome

Autosomal recessive

Infancy, Neonatal

Hydrocephalus with stenosis of the aqueduct of Sylvius

X-linked recessive

Antenatal, Neonatal

Hyper-IgM syndrome type 2

Autosomal recessive

Hyper-IgM syndrome type 3

Autosomal recessive

Hyper-IgM syndrome type 5

Autosomal recessive

Hyperimmunoglobulinemia D with periodic fever

Autosomal recessive

Infancy

Hypocalcified amelogenesis imperfecta

Autosomal dominant, Autosomal recessive

Hypochondrogenesis

Autosomal dominant

Infancy, Neonatal

Hypomaturation amelogenesis imperfecta

Autosomal recessive, X-linked dominant

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Autosomal dominant

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Autosomal recessive

Infancy, Neonatal

Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Autosomal recessive

Childhood, Infancy

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Hypoplastic amelogenesis imperfecta

Autosomal dominant, Autosomal recessive, X-linked dominant

Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency

Autosomal recessive