Disorders
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- GABA-Transaminase Deficiency OMIM
- GABRD-Related Generalized Epilepsy with Febrile Seizures Plus OMIM
- GABRG2-Related Dravet Syndrome OMIM
- GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus OMIM
- Galactokinase Deficiency OMIM
- Galactosemia GeneReviewOMIM
- Duarte Variant Galactosemia
- Galactosialidosis OMIM
- Gallbladder Disease 1 OMIM
- Gastrointestinal Stromal Tumor OMIM
- GATA1-Related Cytopenia GeneReviewOMIM
- GATA1-Related Anemia
- GATA1-Related Anemia with Thrombocytopenia
- GATA1-Related Neutropenia
- GATA1-Related Thrombocytopenia
- GATA1-Related Thrombocytopenia with Beta-Thalassemia
- Gaucher Disease GeneReviewOMIM
- Gaucher Disease Type 1
- Gaucher Disease Type 2 (Acute)
- Gaucher Disease Type 3 (Subacute/Chronic)
- Gaucher Disease, Cardiovascular Form
- Gaucher Disease, Perinatal-Lethal Form
- Gaucher Disease, Atypical, due to Saposin C Deficiency OMIM
- GBE1-Related Disorders OMIM
- Adult Polyglucosan Body Disease GeneReviewOMIM
- Glycogen Storage Disease Type IV GeneReviewOMIM
- Geleophysic Dysplasia GeneReviewOMIM
- Geleophysic Dysplasia 1 OMIM
- Geleophysic Dysplasia 2 OMIM
- Generalized Epilepsy and Paroxysmal Dyskinesia OMIM
- Generalized Pustular Psoriasis OMIM
- Genetic Prion Diseases GeneReviewOMIM
- Familial Creutzfeldt-Jakob Disease
- Fatal Familial Insomnia
- Gerstmann-Straussler-Scheinker Disease
- Huntington Disease-Like 1 OMIM
- Geroderma Osteodysplasticum OMIM
- Giant Axonal Neuropathy GeneReviewOMIM
- Gilbert Syndrome OMIM
- Gingival Fibromatosis 1 OMIM
- Gitelman Syndrome OMIM
- GJB3-Related Erythrokeratodermia Variabilis OMIM
- GJB4-Related Erythrokeratodermia Variabilis OMIM
- GJC2-Related Disorders OMIM
- Pelizaeus-Merzbacher-Like Disease 1 OMIM
- Spastic Paraplegia 44 OMIM
- Glaucoma 1, Open Angle, A OMIM
- GLB1-Related Disorders OMIM
- GM1 Gangliosidosis OMIM
- GM1 Gangliosidosis Type I
- GM1 Gangliosidosis Type II
- GM1 Gangliosidosis Type III
- Mucopolysaccharidosis Type IVB OMIM
- GLI3-Related Disorders OMIM
- Greig Cephalopolysyndactyly Syndrome GeneReviewOMIM
- Pallister-Hall Syndrome GeneReviewOMIM
- Postaxial Polydactyly Type A OMIM
- Preaxial Polydactyly Type IV OMIM
- Global Cerebral Hypomyelination OMIM
- Glomuvenous Malformation OMIM
- Glucocorticoid Deficiency 1 OMIM
- Glucocorticoid Deficiency 2 OMIM
- Glucocorticoid-Remediable Aldosteronism OMIM
- Glucose Transporter Type 1 Deficiency Syndrome GeneReviewOMIM
- Dystonia 18 OMIM
- Dystonia 9 OMIM
- Glucose-6-Phosphate Dehydrogenase Deficiency OMIM
- Glucose-Galactose Malabsorption OMIM
- Glutamine Deficiency, Congenital OMIM
- Glutaricacidemia Type 1 OMIM
- Glutathione Synthetase Deficiency OMIM
- Glycerol Kinase Deficiency OMIM
- Glycine Encephalopathy GeneReviewOMIM
- AMT-Related Glycine Encephalopathy OMIM
- GCSH-Related Glycine Encephalopathy OMIM
- GLDC-Related Glycine Encephalopathy OMIM
- Glycogen Storage Disease Multi-Gene Panels
- Glycogen Storage Disease of Heart, Lethal Congenital OMIM
- Glycogen Storage Disease Type 0, Liver OMIM
- Glycogen Storage Disease Type 0, Muscle OMIM
- Glycogen Storage Disease Type I GeneReviewOMIM
- Glycogen Storage Disease Type Ia OMIM
- Glycogen Storage Disease Type Ib OMIM
- Glycogen Storage Disease Type II (Pompe Disease) GeneReviewOMIM
- Glycogen Storage Disease Type III GeneReviewOMIM
- Glycogen Storage Disease Type V GeneReviewOMIM
- Glycogen Storage Disease Type VI GeneReviewOMIM
- Glycogen Storage Disease Type VII OMIM
- Glycogen Storage Disease Type X OMIM
- Glycogen Storage Disease Type XIV OMIM
- Glycogen Storage Disease XI OMIM
- Glycogen Storage Disease XIII OMIM
- Glycoprotein 1a Deficiency OMIM
- GM2 Activator Deficiency OMIM
- GNE-Related Myopathy GeneReviewOMIM
- GNPTAB-Related Mucolipidoses OMIM
- Mucolipidosis II GeneReviewOMIM
- Pacman Dysplasia
- Mucolipidosis III Alpha/Beta GeneReviewOMIM
- Goldberg-Shprintzen Megacolon Syndrome OMIM
- Gout, HPRT1-Related OMIM
- Gracile Syndrome OMIM
- Gray Platelet Syndrome OMIM
- Greenberg Dysplasia OMIM
- GRIP1-Related Fraser Syndrome OMIM
- Griscelli Syndrome, Type 2 OMIM
- GRN-Related Frontotemporal Dementia GeneReviewOMIM
- Growth Hormone Insensitivity with Immunodeficiency OMIM
- Growth Retardation, Developmental Delay, Coarse Facies, and Early Death OMIM
- GTP Cyclohydrolase 1-Related Disorders OMIM
- GTP Cyclohydrolase 1 Deficiency (GTPCH) OMIM
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia GeneReviewOMIM
- Haim-Munk Syndrome OMIM
- Hajdu-Cheney Syndrome OMIM
- Hamamy Syndrome OMIM
- Hand-Foot-Genital Syndrome GeneReviewOMIM
- Hartnup Disease OMIM
- Hawkinsinuria OMIM
- Hearing Loss/Deafness Multi-Gene Panels
- Hemoglobin Constant Spring OMIM
- Hemoglobin E OMIM
- Hemoglobin Pakse OMIM
- Hemoglobin Quong Sze OMIM
- Hemolytic Anemia due to Band 3 Montefiore OMIM
- Hemophilia A GeneReviewOMIM
- Hemophilia B GeneReviewOMIM
- Hennekam Lymphangiectasia-Lymphedema Syndrome OMIM
- Hepatic Failure, Early-Onset, and Neurologic Disorder due to Cytochrome C Oxidase Deficiency OMIM
- Hepatic Lipase Deficiency OMIM
- Hepatic Veno-occlusive Disease with Immunodeficiency GeneReviewOMIM
- Hereditary Angioedema OMIM
- Hereditary Angioedema Type III OMIM
- Hereditary Ataxias GeneReview
- Hereditary Congenital Facial Paresis 3 OMIM
- Hereditary Coproporphyria GeneReviewOMIM
- Hereditary Diffuse Gastric Cancer GeneReviewOMIM
- Hereditary Essential Tremor 1 OMIM
- Hereditary Folate Malabsorption GeneReviewOMIM
- Hereditary Fructose Intolerance OMIM
- Hereditary Hearing Loss and Deafness GeneReviewOMIM
- Nonsyndromic Hearing Loss and Deafness OMIM
- Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant OMIM
- DFNA 1 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA 2 Nonsyndromic Hearing Loss GeneReviewOMIM
- DFNA 2B Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA 3 Nonsyndromic Hearing Loss and Deafness GeneReviewOMIM
- DFNA 4 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA 5 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA 8/12 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA 9 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA10 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA11 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA13 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA15 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA17 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA20/26 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA22 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA23 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA25 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA28 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA36 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA44 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA48 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNA50 Nonsyndromic Hearing Loss and Deafness OMIM
- Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive OMIM
- DFNB 1 Nonsyndromic Hearing Loss and Deafness GeneReviewOMIM
- DFNB 2 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB 3 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB 6 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB 7/11 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB 8/10 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB12 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB16 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB18 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB21 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB22 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB23 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB24 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB28 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB29 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB30 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB31 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB35 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB36 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB37 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB39 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB49 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB59 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB61 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB63 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB67 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB77 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNB79 Nonsyndromic Hearing Loss and Deafness OMIM
- OTOF-Related Deafness GeneReviewOMIM
- Pendred Syndrome/DFNB4 GeneReviewOMIM
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial GeneReviewOMIM
- MT-CO1-Related Hearing Loss and Deafness OMIM
- MT-RNR1-Related Hearing Loss and Deafness OMIM
- MT-TS1-Related Hearing Loss and Deafness OMIM
- Nonsyndromic Hearing Loss and Deafness, X-Linked
- DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness GeneReviewOMIM
- DFNX2 Nonsyndromic Hearing Loss and Deafness OMIM
- DFNX4 (DFN6) Nonsyndromic Hearing Loss and Deafness OMIM
- Hereditary Hemorrhagic Telangiectasia GeneReviewOMIM
- ACVRL1-Related Hereditary Hemorrhagic Telangiectasia OMIM
- ENG-Related Hereditary Hemorrhagic Telangiectasia OMIM
- SMAD4-Related Hereditary Hemorrhagic Telangiectasia OMIM
- Hereditary Hypophosphatemic Rickets with Hypercalciuria OMIM
- Hereditary Leiomyomatosis and Renal Cell Cancer GeneReviewOMIM
- Multiple Cutaneous and Uterine Leiomyomas OMIM
- Hereditary Lymphedema IC OMIM
- Hereditary Mixed Polyposis Syndrome 1 OMIM
- Hereditary Mixed Polyposis Syndrome 2 OMIM
- Hereditary Motor and Sensory Neuropathy VI OMIM
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum GeneReviewOMIM
- Hereditary Multiple Osteochondromas GeneReviewOMIM
- Hereditary Multiple Osteochondromatosis, Type I OMIM
- Hereditary Multiple Osteochondromatosis, Type II OMIM
- Hereditary Myopathy with Early Respiratory Failure OMIM
- Hereditary Nephrotic Syndromes
- Hereditary Nephrotic Syndromes, Autosomal Dominant
- Diffuse Mesangial Sclerosis Syndromes (DMS)
- WT1-Related Disorders OMIM
- Focal Segmental Glomerulosclerosis OMIM
- Focal Segmental Glomerulosclerosis 1 OMIM
- Focal Segmental Glomerulosclerosis 2 OMIM
- Focal Segmental Glomerulosclerosis 3 OMIM
- Focal Segmental Glomerulosclerosis 5 OMIM
- Hereditary Nephrotic Syndromes, Autosomal Recessive
- Congenital Finnish Nephrosis OMIM
- Steroid-Resistant Nephrotic Syndrome OMIM
- Hereditary Neuralgic Amyotrophy GeneReviewOMIM
- Hereditary Neuropathy with Liability to Pressure Palsies GeneReviewOMIM
- Hereditary Pancreatitis OMIM
- CFTR-Related Hereditary Pancreatitis OMIM
- CTRC-Related Hereditary Pancreatitis OMIM
- PRSS1-Related Hereditary Pancreatitis GeneReviewOMIM
- SPINK1-Related Hereditary Pancreatitis OMIM
- Hereditary Paraganglioma-Pheochromocytoma Multi-Gene Panels
- Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviewOMIM
- MAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome OMIM
- SDHA-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome OMIM
- SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome OMIM
- SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome OMIM
- SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome OMIM
- SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome OMIM
- Hereditary Persistence of Fetal Hemoglobin OMIM
- Hereditary Pyropoikilocytosis OMIM
- Hereditary Sensory and Autonomic Neuropathy Type IC OMIM
- Hereditary Sensory and Autonomic Neuropathy Type II GeneReviewOMIM
- Hereditary Sensory and Autonomic Neuropathy Type IIA OMIM
- Hereditary Sensory and Autonomic Neuropathy Type IIB OMIM
- Hereditary Sensory and Autonomic Neuropathy Type IIC OMIM
- Hereditary Sensory and Autonomic Neuropathy Type IV GeneReviewOMIM
- Hereditary Sensory and Autonomic Neuropathy Type V OMIM
- Hereditary Sensory and Autonomic Neuropathy Type VI OMIM
- Hereditary Sensory Neuropathy Type IA GeneReviewOMIM
- Hereditary Sensory Neuropathy Type ID OMIM
- Hereditary Spastic Paraplegia GeneReview
- Heritable Pulmonary Arterial Hypertension GeneReviewOMIM
- Hermansky-Pudlak Syndrome GeneReviewOMIM
- Hermansky-Pudlak Syndrome 1 OMIM
- Hermansky-Pudlak Syndrome 2 OMIM
- Hermansky-Pudlak Syndrome 3 OMIM
- Hermansky-Pudlak Syndrome 4 OMIM
- Hermansky-Pudlak Syndrome 5 OMIM
- Hermansky-Pudlak Syndrome 6 OMIM
- Hermansky-Pudlak Syndrome 7 OMIM
- Hermansky-Pudlak Syndrome 8 OMIM
- Hermansky-Pudlak Syndrome 9 OMIM
- Heterotaxy Multi-Gene Panels
- Heterotaxy Syndrome OMIM
- ACVR2B-Related Visceral Heterotaxy OMIM
- CFC1-Related Visceral Heterotaxy OMIM
- LEFTY2-Related Visceral Heterotaxy OMIM
- NODAL-Related Visceral Heterotaxy OMIM
- ZIC3-Related Visceral Heterotaxy OMIM
- Hexosaminidase A Deficiency GeneReviewOMIM
- Chronic and Adult-Onset Hexosaminidase A Deficiency
- Juvenile (Subacute) Hexosaminidase A Deficiency
- Tay-Sachs Disease
- HFE-Associated Hereditary Hemochromatosis GeneReviewOMIM
- Hidrotic Ectodermal Dysplasia 2 GeneReviewOMIM
- Hirschsprung Disease GeneReviewOMIM
- ECE1-Related Hirschsprung Disease OMIM
- EDN3-Related Hirschsprung Disease OMIM
- EDNRB-Related Hirschsprung Disease OMIM
- GDNF-Related Hirschsprung Disease OMIM
- NRTN-Related Hirschsprung Disease OMIM
- RET-Related Hirschsprung Disease OMIM
- Histidinemia OMIM
- Histiocytosis-Lymphadenopathy Plus Syndrome OMIM
- Holoprosencephaly GeneReviewOMIM
- CDON-Related Holoprosencephaly OMIM
- FOXH1-Related Holoprosencephaly OMIM
- GLI2-Related Holoprosencephaly OMIM
- HPE6-Related Holoprosencephaly OMIM
- HPE8-Related Holoprosencephaly OMIM
- NODAL-Related Holoprosencephaly OMIM
- PTCH1-Related Holoprosencephaly OMIM
- SHH-Related Holoprosencephaly OMIM
- SIX3-Related Holoprosencephaly OMIM
- TGIF1-Related Holoprosencephaly OMIM
- ZIC2-Related Holoprosencephaly OMIM
- Holoprosencephaly Multi-Gene Panels
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency GeneReviewOMIM
- HOXA1-Related Disorders OMIM
- Athabaskan Brain Stem Dysgenesis Syndrome OMIM
- Bosley-Salih-Alorainy Syndrome OMIM
- HOXD13-Related Brachydactyly OMIM
- Brachydactyly Type D OMIM
- Brachydactyly Type E OMIM
- Huntington Disease GeneReviewOMIM
- Huntington Disease-Like 2 GeneReviewOMIM
- Hyalinosis, Inherited Systemic GeneReviewOMIM
- Infantile Systemic Hyalinosis
- Juvenile Hyaline Fibromatosis
- Hydatidiform Mole, Recurrent OMIM
- Hydrolethalus Syndrome 1 OMIM
- Hydroxyprolinemia OMIM
- Hyper IgD Syndrome OMIM
- Hyper-Beta-Alaninemia OMIM
- Hyperaldosteronism, Familial, Type III OMIM
- Hyperammonemia Multi-Gene Panels
- Hypercalcemia, Infantile OMIM
- Hyperekplexia GeneReviewOMIM
- ARHGEF9-Related Hyperekplexia OMIM
- GLRA1-Related Hyperekplexia OMIM
- GLRB-Related Hyperekplexia OMIM
- GPHN-Related Hyperekplexia OMIM
- SLC6A5-Related Hyperekplexia OMIM
- Hyperekplexia Multi-Gene Panels
- Hypereosinophilic Syndrome OMIM
- Hyperferritinemia Cataract Syndrome OMIM
- Hyperkalemic Periodic Paralysis OMIM
- Hyperkalemic Periodic Paralysis Type 1 GeneReviewOMIM
- Hyperkalemic Periodic Paralysis Type 2
- Hyperleucine-Isoleucinemia OMIM
- Hyperlysinemia OMIM
- Hypermethioninemia due to Adenosine Kinase Deficiency OMIM
- Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency OMIM
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome GeneReviewOMIM
- Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus OMIM
- Hyperoxaluria, Primary, Multi-Gene Panels
- Hyperoxaluria, Primary, Type 1 GeneReviewOMIM
- Hyperoxaluria, Primary, Type 2 GeneReviewOMIM
- Hyperoxaluria, Primary, Type 3 OMIM
- Hyperparathyroidism 1 OMIM
- Hyperphosphatasia with Mental Retardation Syndrome OMIM
- Hyperphosphatasia with Mental Retardation Syndrome 1 OMIM
- Hyperphosphatasia with Mental Retardation Syndrome 2 OMIM
- Hyperphosphatemic Familial Tumoral Calcinosis, FGF23-Related OMIM
- Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related OMIM
- Hyperphosphatemic Familial Tumoral Calcinosis, KL-Related OMIM
- Hyperprolinemia, Type I OMIM
- Hyperprolinemia, Type II OMIM
- Hyperthyroidism, Nonautoimmune OMIM
- Hypertrichotic Osteochondrodysplasia OMIM
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis OMIM
- Hypochondroplasia GeneReviewOMIM
- Hypochromic Microcytic Anemia with Iron Overload OMIM
- Hypogonadotropic Hypogonadism 9 with or without Anosmia OMIM
- Hypohidrotic Ectodermal Dysplasia GeneReviewOMIM
- Hypohidrotic Ectodermal Dysplasia, Autosomal OMIM
- Hypohidrotic Ectodermal Dysplasia, X-Linked OMIM
- Hypohidrotic Ectodermal Dysplasia with Immune Deficiency OMIM
- Hypoinsulinemic Hypoglycemia with Hemihypertrophy OMIM
- Hypokalemic Periodic Paralysis GeneReviewOMIM
- Hypokalemic Periodic Paralysis Type 1 OMIM
- Hypokalemic Periodic Paralysis Type 2 OMIM
- Hypomagnesemia 2, Renal OMIM
- Hypomagnesemia 6, Renal OMIM
- Hypomagnesemia with Secondary Hypocalcemia OMIM
- Hypomagnesemia, Renal, with Ocular Involvement OMIM
- Hypomyelinating Leukodystrophy 3 OMIM
- Hypomyelination and Congenital Cataract GeneReviewOMIM
- Hypoparathyroidism, Sensorineural Deafness, and Renal Disease OMIM
- Hypoparathyroidism-Retardation-Dysmorphism Syndrome OMIM
- Hypophosphatasia GeneReviewOMIM
- Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 OMIM
- Hypophosphatemic Rickets Multi-Gene Panels
- Hypophosphatemic Rickets, Autosomal Dominant OMIM
- Hypophosphatemic Rickets, Autosomal Recessive 1 OMIM
- Hypophosphatemic Rickets, Autosomal Recessive 2 OMIM
- Hypoplastic Left Heart Syndrome OMIM
- Hypospadias 2, X-Linked OMIM
- Hypotrichosis 2 OMIM
- Hypotrichosis-Lymphedema-Telangiectasia Syndrome OMIM