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

Autosomal recessive

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

Autosomal recessive

Hypotrichosis simplex

Autosomal dominant, Autosomal recessive

Childhood

Hypotrichosis simplex of the scalp

Autosomal dominant

Childhood

Hypotrichosis with juvenile macular degeneration

Autosomal recessive

Infancy, Neonatal

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

Hypoxanthine-guanine phosphoribosyltransferase deficiency

X-linked recessive

All ages

ICF syndrome

Autosomal recessive

Childhood

ICHAD syndrome

Autosomal dominant

IFIH1-related hereditary spastic paraplegia

Autosomal dominant

IL21-related infantile inflammatory bowel disease

Autosomal recessive

Infancy

IMAGe syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

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

IVIC syndrome

Autosomal dominant

Antenatal, Neonatal

Iatrogenic Creutzfeldt-Jakob disease

Adult