Disorders: G

Disorders Alternate Names Genes Inheritance Pattern
Gabriele-de Vries Syndrome GADEVS YY1 autosomal dominant
Galactokinase Deficiency galactosemia II, GALK deficiency GALK1 autosomal recessive
Galactose Epimerase Deficiency galactosemia III, GALE deficiency GALE autosomal recessive
Galactosemia classic galactosemia, galactosemia I, GALT deficiency GALT autosomal recessive
Galloway-Mowat Syndrome Galloway syndrome, GAMOS, microcephaly hiatal hernia and nephrotic syndrome, nephrosis-microcephaly syndrome, nephrosis-neuronal dysmigration syndrome WDR73 autosomal recessive
GAPO Syndrome alopecia, and optic atrophy syndrome, growth retardation, pseudoanodontia ANTXR1 autosomal recessive
Gaucher Disease GBA deficiency, glucocerebrosidase deficiency GBA autosomal recessive
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 HGPPS1, horizontal gaze palsy with progressive scoliosis 1 ROBO3 autosomal recessive
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2 HGPPS2 DCC
Gillespie Syndrome aniridia cerebellar ataxia and mental retardation syndrome, hypotonia, tremor ITPR1, PAX6 autosomal dominant
Glaucoma, Congenital Primary A congenital glaucoma, GLC3, GLC3A, infantile glaucoma CYP1B1 autosomal recessive
Glaucoma, Congenital Primary B GLC3 type B, GLC3B, infantile glaucoma, primary infantile glaucoma GLC3B autosomal recessive
Glaucoma, Congenital Primary C GLC3C, primary congenital glaucoma 3, primary congenital glaucoma C q24.3 locus autosomal recessive?
Glaucoma, Congenital Primary D congenital glaucoma plus LTBP2 autosomal recessive
Glaucoma, Congenital Primary E GLC3E TEK autosomal dominant
Glaucoma, Open Angle, Juvenile GLAC1A, glaucoma 1, JOAG1, juvenile open angle glaucoma MYOC autosomal dominant
Glaucoma, Open Angle, Primary chronic simple glaucoma, CSG, OAG, open angle glaucoma, POAG MYOC ?
Glaucoma, Pigment Dispersion Syndrome cataracts, GPDS1, PDS, pigment-dispersion syndrome 7q35-q36 locus autosomal dominant
GM1 Gangliosidosis beta-galactosidase-1 deficiency, generalized gangliosidosis type I, GLB1 deficiency GLB1 autosomal recessive
GM3 Synthase Deficiency Amish infantile epilepsy syndrome, salt and pepper mental retardation syndrome, SPDRS SIAT9 autosomal recessive
Goldenhar Syndrome Spectrum Goldenhar syndrome, hemifacial microsomia, OAV dysplasia, OAVS, oculoauriculovertebral dysplasia, oculoauriculovertebral spectrum, pretragal fistulas 14q32 locus autosomal dominant?
Goldmann-Favre Syndrome/ESCS enhanced S-cone syndrome, ESCS, Favre hyaloidoretinal degeneration, GFS, retinoschisis with early hemeralopia NR2E3 autosomal recessive
Gorlin-Chaudhry-Moss Syndrome GCM syndrome ? autosomal recessive?
Gracile Bone Dysplasia GCLEB, habrodysplasia, osteocraniosplenic syndrome, osteocraniostenosis FAM111A autosomal dominant
Gurrieri Syndrome ? autosomal recessive?
Gyrate Atrophy gyrate atrophy of choroid and retina, OAT, ornithine aminotransferase deficiency OAT autosomal recessive