GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
H33 entries · 15 genes, 18 conditions
Gene Symbols (15)
Conditions (18)
HNPPHoyeraal-Hreidarsson syndromeHuntington disease+Hurler syndromeHematologic DisordersHemophagocytic LymphohistiocytosisHEREDITARY ATAXIA: RECESSIVE, CONGENITAL & X-LINKEDHEREDITARY ATAXIAS: DOMINANTHereditary Inflammatory MyopathiesHEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)Hereditary Neuropathies (CMT 1H or D-HMN) ± Macular Degeneration & Hyperelastic Skin (HNARMD)Hereditary: See CMT syndromesHERPES ZOSTER (Varicella)HMSN + Systemic, CNS or Cranial nerve Disorders: Dominant, AxonalHMSN III (Dejerine-Sottas)HMSN2 with Giant Axons (GAN2)Hyperammonemic & Urea cycle Disturbances (Early or Late Onset)Hyperthyroidism
Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.