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-failure to thrive-microcephaly syndrome

Autosomal recessive

Infancy, Neonatal

Hypotonia-speech impairment-severe cognitive delay syndrome

Autosomal recessive

Infancy, Neonatal

Hypotrichosis simplex

Autosomal dominant, Autosomal recessive

Childhood

Hypotrichosis simplex of the scalp

Autosomal dominant

Childhood

Hypotrichosis-deafness syndrome

Autosomal dominant

Infancy, Neonatal

Hypotrichosis-intellectual disability, Lopes type

Autosomal recessive

Childhood, Infancy

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Infancy, Neonatal

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

X-linked recessive

All ages

ICHAD syndrome

Autosomal dominant

IFIH1-related hereditary spastic paraplegia

Autosomal dominant

IL21-related infantile inflammatory bowel disease

Autosomal recessive

Infancy

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

Autosomal dominant

Childhood, Infancy, Neonatal

IRIDA syndrome

Autosomal recessive

Infancy, Neonatal

IRVAN syndrome

Not applicable

Adolescent, Adult, Childhood

ISPD-related limb-girdle muscular dystrophy R20

Autosomal recessive

Childhood, Infancy

ITM2B amyloidosis

Autosomal dominant

Adult

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Autosomal recessive

Infancy, Neonatal

Iatrogenic Creutzfeldt-Jakob disease

Adult

Ichthyosis follicularis-alopecia-photophobia syndrome

Autosomal dominant, Not applicable, X-linked recessive

Infancy, Neonatal

Ichthyosis hystrix of Curth-Macklin

Autosomal dominant, Not applicable

Childhood