- Ependymoma
- Hyperphosphatasia With Mental Retardation Syndrome 1
- Hypertension, Renal
- Hypertensive Encephalopathy
- Hypertrophic Neuropathy And Cataract
- Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
- Hypobetalipoproteinemia, Familial, Apolipoprotein B
- Hypodontia Oligodontia With Orofacial Cleft
- Hypoglossia-Hypodactylia
- Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
- Tetralogy Of Fallot Syndrome, Autosomal Recessive
- Tetrasomy X
- Hypolipoproteinemias
- Hypomelanosis Of Ito
- Hypophosphatasia, Infantile
- Hypophosphatemia, Familial
- Hypophosphatemic Rickets With Hypercalciuria, Hereditary
- Hypospadias-Mental Retardation Syndrome
- Plantar Lipomatosis, Unusual Facies, And Developmental Delay
- Thalassemia, Beta+, Silent Allele
- Kallmann Syndrome 2 With Bimanual Synkinesia
- Hypotrichosis, Progressive Patterned Scalp, With Wiry Hair, Onycholysis, And Cleft Lip-Palate
- Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
- Ichthyosiform Erythroderma, Corneal Involvement, Deafness
- Ichthyosis, Lamellar, 5
- Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
- Idiopathic Basal Ganglia Calcification, Childhood Onset
- Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2
- Iida Kannari Syndrome
- Immersion Foot
- Keratitis Sicca
- X Chromosome, Duplication Xq13 1 Q21 1
- X Chromosome, Trisomy Xp3
- Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
- Immunoproliferative Small Intestinal Disease
- Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
- Incontinentia Pigmenti, Familial Male-Lethal Type
- Infarction, Anterior Cerebral Artery
- Infarction, Middle Cerebral Artery
- Infarction, Posterior Cerebral Artery