Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | Click here to display 5 evidence detail records. |
Human | GDF6 | 392255 | growth differentiation factor 6 | Vocal impairment, severe, due to laryngeal cartilage abnormalities |
Human | TSEN54 | 283989 | TSEN54 tRNA splicing endonuclease subunit | Developmental delay, severe |
Human | ASPM | 259266 | asp (abnormal spindle) homolog, microcephaly associated (Drosophila) | Mental retardation, mild to severe |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | Hypomelia (more severe in upper limbs) Presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death |
Human | GFM1 | 85476 | G elongation factor, mitochondrial 1 | Metabolic acidosis, severe |
Human | GPR98 | 84059 | G protein-coupled receptor 98 | Hearing loss, congenital sensorineural, moderate-severe |
Human | SBF2 | 81846 | SET binding factor 2 | Claw hand deformities (in severe cases) |
Human | WNT10A | 80326 | wingless-type MMTV integration site family, member 10A | |
Human | OPA3 | 80207 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | Cognitive defects (variable from mild to severe) |
Human | GRHL2 | 79977 | grainyhead-like 2 (Drosophila) | Severe loss in the higher frequencies by the fifth decade |
Human | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Mental retardation, severe Severe demyelination of the white matter |
Human | EHMT1 | 79813 | euchromatic histone-lysine N-methyltransferase 1 | Mental retardation, severe |
Human | SLC25A22 | 79751 | solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | Evolution to severe encephalopathy |
Human | MCPH1 | 79648 | microcephalin 1 | Mental retardation, severe |
Human | SH3TC2 | 79628 | SH3 domain and tetratricopeptide repeats 2 | Scoliosis, early-onset, severe |
Human | PCDH15 | 65217 | protocadherin-related 15 | Severe to profound deafness |
Human | WNK1 | 65125 | WNK lysine deficient protein kinase 1 | Sural nerve biopsy shows severe loss of myelinated fibers |
Human | UPF3B | 65109 | UPF3 regulator of nonsense transcripts homolog B (yeast) | Mental retardation, mild to severe |
Human | ROBO3 | 64221 | roundabout, axon guidance receptor, homolog 3 (Drosophila) | Scoliosis, thoracolumbar, severe, progressive |
Human | PRX | 57716 | periaxin | Claw hand deformities (in severe cases) |
Human | MRPS22 | 56945 | mitochondrial ribosomal protein S22 | Metabolic acidosis, severe |
Human | CC2D1A | 54862 | coiled-coil and C2 domain containing 1A | Mental retardation, severe |
Human | APTX | 54840 | aprataxin | Axonal sensory and motor peripheral neuropathy, severe Cerebellar ataxia, severe |
Human | WNT4 | 54361 | wingless-type MMTV integration site family, member 4 | Congenital absence or severe hypoplasia of uterus Congenital absence or severe hypoplasia of the upper two-thirds of vagina |