| Syndrome |
Gene |
Chromosome |
Location |
Category |
| Hajdu-Cheney syndrome | NOTCH2 | 1 | p11-13 | Cleft lip / cleft palate | |
| Hartnup disease | SLC6A19 | 5 | p15.33 | Ataxia spectrum | |
| Hashimoto thyroiditis | CTLA4 | 2 | q33.2 | Hypothyroidism | |
| Hashimoto thyroiditis | HLA-DRB1 | 6 | p21.32 | Hypothyroidism | |
| Helsmoortel-van der Aa syndrome | ADNP | 20 | q13.13 | Autism spectrum | |
| HEMIFACIAL MICROSOMIA | HFM | 14 | q32 | Autism spectrum | |
| Hemorrhagic destruction of the brain with cataracts (HDBSCC) | JAM3 | 11 | q25 | Cataracts | |
| Hennekam syndrome | CCE1 | 18 | q21.32 | Autism spectrum | |
| Hepatic lipase deficiency | LIPC | 15 | q21.3 | Hyperlipidemia | |
| hereditary cerebral amyloid angiopathy | APP | 21 | q21.3 | Alzheimer Syndrome | |
| hereditary cerebral amyloid angiopathy | CST3 | 20 | p11.21 | Alzheimer Syndrome | |
| hereditary cerebral amyloid angiopathy | ITM2B | 13 | q14.2 | Alzheimer Syndrome | |
| Hereditary folate malabsorption | SLC46A1 | 17 | q11.2 | Ataxia spectrum | |
| hereditary hyperekplexia | ARHGEF9 | 23 | q11.1 | Epilepsy and seizures | |
| hereditary hyperekplexia | GLRA1 | 5 | q33.1 | Epilepsy and seizures | |
| hereditary hyperekplexia | GLRB | 4 | q32.1 | Epilepsy and seizures | |
| hereditary hyperekplexia | GPHN | 14 | q23.3 | Epilepsy and seizures | |
| hereditary hyperekplexia | SLC6A5 | 11 | p15.1 | Epilepsy and seizures | |
| Hereditary intrinsic factor deficiency | GIF | 11 | q12.1 | Vitamin B12 metabolism spectrum | |
| Hereditary myopathy with lactic acidosis | ISCU | 12 | q24.1 | Tachycardia (>100 beats/minute) | |
| Hereditary neuropathy with liability to pressure palsies | PMP22 | 17 | p12 | Cerebral palsy | |
| hereditary pancreatitis | CFTR | 7 | q31.2 | Diabetes | |
| hereditary pancreatitis | CTRC | 1 | p36.21 | Diabetes | |
| hereditary pancreatitis | PRSS1 | 7 | q34 | Diabetes | |
| hereditary pancreatitis | SPINK1 | 5 | q32 | Diabetes | |
| Hereditary vitamin D-resistant rickets type 2 | VDR | 12 | q13.11 | Alopecia | |
| Hermansky-Pudlak syndrome | AP3B1 | 5 | q14.1 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | AP3D1 | 19 | p13.3 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | BLOC1S3 | 19 | q13.32 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | BLOC1S6 | 15 | q21.1 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | DTNBP1 | 6 | p22.3 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | HPS1 | 10 | q24.2 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | HPS3 | 3 | q24 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | HPS4 | 22 | q12.1 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | HPS5 | 11 | p15.1 | Irritable Bowel Disorders | |
| Hermansky-Pudlak syndrome | HPS6 | 10 | q24.32 | Irritable Bowel Disorders | |
| Herpes simplex encephalitis 1 (HSE1) | UNC93B1 | 11 | q13.2 | Encephalitis | |
| heterotaxy syndrome | ACVR2B | 3 | p22.2 | Heterotaxy | |
| heterotaxy syndrome | CFAP53 | 18 | q21.1 | Heterotaxy | |
| heterotaxy syndrome | CFC1 | 2 | q21.1 | Heterotaxy | |
| heterotaxy syndrome | CITED2 | 6 | q24.1 | Heterotaxy | |
| heterotaxy syndrome | CRELD1 | 3 | p25.3 | Heterotaxy | |
| heterotaxy syndrome | DNAH11 | 7 | p15.3 | Heterotaxy | |
| heterotaxy syndrome | DNAH5 | 5 | p15.2 | Heterotaxy | |
| heterotaxy syndrome | DNAI1 | 9 | p13.3 | Heterotaxy | |
| heterotaxy syndrome | FOXH1 | 8 | q24.3 | Heterotaxy | |
| heterotaxy syndrome | GATA4 | 8 | p23.1 | Heterotaxy | |
| heterotaxy syndrome | GDF1 | 19 | p13.11 | Heterotaxy | |
| heterotaxy syndrome | GJA1 | 6 | q22.31 | Heterotaxy | |
| heterotaxy syndrome | LEFTY2 | 1 | q42.12 | Heterotaxy | |
| heterotaxy syndrome | MMP21 | 10 | q26.2 | Heterotaxy | |
| heterotaxy syndrome | NAT10 | 11 | p13 | Heterotaxy | |
| heterotaxy syndrome | NKX2-5 | 5 | q35.1 | Heterotaxy | |
| heterotaxy syndrome | NODAL | 10 | q22.1 | Heterotaxy | |
| heterotaxy syndrome | SESN1 | 6 | q21 | Heterotaxy | |
| heterotaxy syndrome | SHROOM3 | 4 | q21.1 | Heterotaxy | |
| heterotaxy syndrome | SMAD2 | 18 | q21.1 | Heterotaxy | |
| heterotaxy syndrome | ZIC3 | 23 | q26.3 | Heterotaxy | |
| heterotaxy syndrome | ZIC4 | 3 | q24 | Heterotaxy | |
| HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2 | HSCR2 | 13 | q22.3 | Autism spectrum | |
| HISTIDINE DECARBOXYLASE | HDC | 15 | q21.2 | Autism spectrum | |
| HIVEP2-related intellectual disability | HIVEP2 | 6 | q24.2 | Panic phobia anxiety | |
| Holocarboxylase synthetase deficiency | HLCS | 21 | q22.13 | Autism spectrum | |
| Holocarboxylase synthetase deficiency with alopecia | HLCS | 21 | q22.13 | Alopecia | |
| Holt-Oram syndrome | TBX5 | 12 | q24.1 | Bradycardia (<60 beats/minute) | |
| HOMEOBOX A1 AND MENTAL RETARDATION 2 | HOXA1 | 7 | p15.2 | Autism spectrum | |
| HOMER DROSOPHILA HOMOLOG OF 1 | HOMER1 | 5 | q14.1 | Autism spectrum | |
| Homocystinuria | MTR | 1 | q43 | Vitamin B12 metabolism spectrum | |
| Homocystinuria | MTRR | 5 | p15.31 | Vitamin B12 metabolism spectrum | |
| HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | CBS | 21 | q22.3 | Autism spectrum | |
| Horizontal gaze palsy with progressive scoliosis (HGPPS) | ROBO3 | 11 | q24.2 | Cerebral palsy | |
| HSD10 disease | HSD17B10 | 23 | p11.22 | Epilepsy and seizures | |
| Huntington disease-like syndrome type 1 | PRNP | 20 | p13 | Huntington`s disease spectrum | |
| Huntington disease-like syndrome type 2 | JPH3 | 16 | q24.2 | Huntington`s disease spectrum | |
| Huntington disease-like syndrome type 4 | TBP | 6 | q27 | Huntington`s disease spectrum | |
| Huntington`s disease | CASP8 | 2 | q33.1 | Huntington`s disease spectrum | |
| Huntington`s disease | HIP1 | 7 | q11.23 | Huntington`s disease spectrum | |
| Huntington`s disease | HTT | 4 | p16.3 | Huntington`s disease spectrum | |
| Huntington`s disease | KALRN | 3 | q21.1 | Huntington`s disease spectrum | |
| Huntington`s disease | PFN1 | 17 | p13.2 | Huntington`s disease spectrum | |
| Huntington`s disease | SETD2 | 3 | p21.31 | Huntington`s disease spectrum | |
| Huntington`s disease | TSPAN7 | 23 | p11.4 | Huntington`s disease spectrum | |
| Hutchinson-Gilford progeria syndrome | LMNA | 1 | q22 | Alopecia | |
| Hyperferritinemia-cataract syndrome | FTL | 19 | q13.33 | Cataracts | |
| HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT | HIES1 | 17 | q21.2 | Autism spectrum | |
| Hyperlipidemia combined 1 | USF1 | 1 | q23.3 | Hyperlipidemia | |
| HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT | HPANBH4 | 10 | q21.3 | Autism spectrum | |
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | HPMRS1 | 1 | p36.11 | Autism spectrum | |
| HYPERPROLINEMIA TYPE I | HYRPRO1 | 22 | q11.21 | Autism spectrum | |
| HYPERTELORISM TEEBI TYPE | TBHS | 22 | q11.23 | Autism spectrum | |
| Hypochromic microcytic anemia with iron overload 2 (AHMIO2) | STEAP3 | 2 | q14.2 | Copper metabolism defects | |
| HYPOMAGNESEMIA SEIZURES | HOMGSMR2 | 1 | p13.1 | Autism spectrum | |
| HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1 | HOMGSMR1 | 10 | q24.32 | Autism spectrum | |
| Hypomyelination and congenital cataract | FAM126A | 7 | p15.3 | Cataracts | |
| Hypothalamic hypothyroidism | TRH | 3 | q22.1 | Hypothyroidism | |
| Hypotonia ataxia and delayed development syndrome | EBF3 | 10 | q26.3 | Autism spectrum | |
| Hypotonia infantile with psychomotor retardation and characteristic facies 3 | TBCK | 4 | q24 | Autism spectrum | |
| Hypotrichosis 4 | HR | 8 | p21.3 | Alopecia | |