Hypomyelination with atrophy of basal ganglia and cerebellum

Autosomal dominant, Autosomal recessive

Childhood, Infancy, Neonatal

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Autosomal recessive

Adolescent, Infancy, Neonatal

Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Autosomal recessive

Childhood, Infancy

Hypomyelination-congenital cataract syndrome

Autosomal recessive

Infancy, Neonatal

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Autosomal dominant

All ages

Hypophosphatasia

Autosomal dominant, Autosomal recessive

All ages

Hypophosphatemic rickets

Autosomal dominant, Autosomal recessive, X-linked dominant

All ages

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Autosomal dominant

Infancy, Neonatal

Hypoplasminogenemia

Autosomal recessive

All ages

Hypoplastic amelogenesis imperfecta

Autosomal dominant, Autosomal recessive, X-linked dominant

Hypoplastic left heart syndrome

Unknown

Antenatal, Neonatal

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Autosomal recessive

Infancy, Neonatal

Hypoplastic right heart syndrome

Neonatal

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Autosomal dominant, Unknown

Antenatal, Neonatal

Hypospadias-intellectual disability, Goldblatt type syndrome

Infancy, Neonatal

Hypothalamic adipsic hypernatraemia syndrome

Not applicable

Hypothyroidism due to TSH receptor mutations

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Autosomal dominant, Autosomal recessive

Infancy

Hypotonia with lactic acidemia and hyperammonemia

Autosomal recessive

Antenatal, Neonatal

Hypotonia-cystinuria syndrome

Autosomal recessive

Infancy, Neonatal

Hypotonia-cystinuria type 1 syndrome

Autosomal recessive

Infancy, Neonatal

Hypotonia-failure to thrive-microcephaly syndrome

Autosomal recessive

Infancy, Neonatal

Hypotonia-speech impairment-severe cognitive delay syndrome

Autosomal recessive

Infancy, Neonatal