Hypocalcemic vitamin D-dependent rickets

Autosomal recessive

Infancy, Neonatal

Hypocalcemic vitamin D-resistant rickets

Autosomal recessive

Infancy, Neonatal

Hypochondroplasia

Autosomal dominant

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal

Hypocomplementemic urticarial vasculitis

Autosomal recessive, Not applicable

Adult, Childhood

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recessive

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Unknown

Infancy

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Autosomal dominant

Childhood

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Unknown

No data available

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

Autosomal recessive

Adolescent, Adult, Childhood

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Autosomal recessive

Infancy, Neonatal

Hypohidrotic ectodermal dysplasia

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Hypohidrotic ectodermal dysplasia with immunodeficiency

Autosomal dominant, X-linked recessive

Infancy, Neonatal

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

X-linked recessive

Infancy, Neonatal

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Autosomal dominant

Infancy, Neonatal

Hypokalemic periodic paralysis

Autosomal dominant

Adolescent, Childhood

Hypomyelination of early myelinating structures

X-linked dominant

Infancy

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

Hypophosphatasia

Autosomal dominant, Autosomal recessive

All ages

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Autosomal dominant

Infancy, Neonatal

Hypoplasminogenemia

Autosomal recessive

All ages

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Autosomal dominant, Unknown

Antenatal, Neonatal

Hypothalamic adipsic hypernatraemia syndrome

Not applicable

Hypothyroidism due to TSH receptor mutations

Autosomal dominant, Autosomal recessive

Infancy, Neonatal