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Disease	Synonyms	Description
Waisman syndrome	early-onset parkinsonism-intellectual disability s.. [+] early-onset parkinsonism-intellectual disability syndrome; Laxova-Opitz syndrome [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. [-]
urocanase deficiency	encephalopathy due to urocanase deficiency; high u.. [+] encephalopathy due to urocanase deficiency; high urine urocanic acid levels; urocanate hydratase deficiency; urocanic aciduria; UROCD [-]	A histidine metabolism disease characterized by ur..[+] A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. [-]
developmental and epileptic encephalopathy 67	early infantile epileptic encephalopathy 67; DEE67.. [+] early infantile epileptic encephalopathy 67; DEE67 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. [-]
developmental and epileptic encephalopathy 68	early infantile epileptic encephalopathy 68; DEE68.. [+] early infantile epileptic encephalopathy 68; DEE68 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. [-]
developmental and epileptic encephalopathy 69	early infantile epileptic encephalopathy 69; DEE69.. [+] early infantile epileptic encephalopathy 69; DEE69 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. [-]
developmental and epileptic encephalopathy 70	early infantile epileptic encephalopathy 70; DEE70.. [+] early infantile epileptic encephalopathy 70; DEE70 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. [-]
developmental and epileptic encephalopathy 71	early infantile epileptic encephalopathy 71; DEE71.. [+] early infantile epileptic encephalopathy 71; DEE71; glutaminase deficiency with neonatal epileptic encephalopathy [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. [-]
developmental and epileptic encephalopathy 72	early infantile epileptic encephalopathy 72; DEE72.. [+] early infantile epileptic encephalopathy 72; DEE72 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. [-]
developmental and epileptic encephalopathy 73	early infantile epileptic encephalopathy 73; DEE73.. [+] early infantile epileptic encephalopathy 73; DEE73 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. [-]
developmental and epileptic encephalopathy 74	early infantile epileptic encephalopathy 74; DEE74.. [+] early infantile epileptic encephalopathy 74; DEE74 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 75	early infantile epileptic encephalopathy 75; DEE75.. [+] early infantile epileptic encephalopathy 75; DEE75 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. [-]
developmental and epileptic encephalopathy 76	early infantile epileptic encephalopathy 76; DEE76.. [+] early infantile epileptic encephalopathy 76; DEE76; developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination; DECAM [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 4	early infantile epileptic encephalopathy 77; DEE77.. [+] early infantile epileptic encephalopathy 77; DEE77; developmental and epileptic encephalopathy 77; glycosylphosphatidylinositol biosynthesis defect 19; GPIBD19; MCAHS4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. [-]
developmental and epileptic encephalopathy 78	early infantile epileptic encephalopathy 78; DEE78.. [+] early infantile epileptic encephalopathy 78; DEE78 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. [-]
developmental and epileptic encephalopathy 79	early infantile epileptic encephalopathy 79; DEE79.. [+] early infantile epileptic encephalopathy 79; DEE79 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. [-]
developmental and epileptic encephalopathy 80	early infantile epileptic encephalopathy 80; DEE80.. [+] early infantile epileptic encephalopathy 80; DEE80; glycosylphosphatidylinositol biosynthesis defect 20; GPIBD20 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. [-]
developmental and epileptic encephalopathy 81	early infantile epileptic encephalopathy 81; DEE81.. [+] early infantile epileptic encephalopathy 81; DEE81 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. [-]
developmental and epileptic encephalopathy 83	early infantile epileptic encephalopathy 83; DEE83.. [+] early infantile epileptic encephalopathy 83; DEE83 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. [-]
developmental and epileptic encephalopathy 84	early infantile epileptic encephalopathy 84; DEE84.. [+] early infantile epileptic encephalopathy 84; DEE84; Jamuar syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. [-]
developmental and epileptic encephalopathy 86	early infantile epileptic encephalopathy 86; DEE86.. [+] early infantile epileptic encephalopathy 86; DEE86 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. [-]
developmental and epileptic encephalopathy 87	early infantile epileptic encephalopathy 87; DEE87.. [+] early infantile epileptic encephalopathy 87; DEE87 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. [-]
developmental and epileptic encephalopathy 88	early infantile epileptic encephalopathy 88; DEE88.. [+] early infantile epileptic encephalopathy 88; DEE88 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. [-]
developmental and epileptic encephalopathy 89	early infantile epileptic encephalopathy 89; DEE89.. [+] early infantile epileptic encephalopathy 89; DEE89 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. [-]
hereditary spastic paraplegia 79B	early-onset progressive neurodegeneration-blindnes.. [+] early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; spastic paraplegia 79 autosomal recessive; SPG79; autosomal recessive spastic paraplegia 79B; SPG79B [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]