Human Phenotype Ontology 
Grandparent Node:
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Abnormal myelination (HP:0012447)help
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Abnormal CNS myelination (HP:0011400)help
..Starting node
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CNS hypomyelination (HP:0003429)help
Term ID: 3429
Name: CNS hypomyelination
Synonym: hypomyelination
Definition: Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Comments:
Reference: HP:0003429
Genes and Diseases:
 
       Child Nodes:
........expandCerebral hypomyelination (HP:0006808) help

 Sister Nodes: 
..expandCerebral dysmyelination (HP:0007266) help
..expandCNS demyelination (HP:0007305) help
..expandCNS hypermyelination (HP:0012754) help
..expandDelayed CNS myelination (HP:0002188) help
..expandLeukodystrophy (HP:0002415) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003429HP:0003429CNS hypomyelination0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0003429HP:0003429CNS hypomyelination0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0003429HP:0003429CNS hypomyelination0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0003429HP:0003429CNS hypomyelination0AHCY CL E G H19188618ORPHA1126343180960
HP:0003429HP:0003429CNS hypomyelination0AHCY CL E G H19188618ORPHA1113343180960
HP:0003429HP:0003429CNS hypomyelination0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0003429HP:0003429CNS hypomyelination0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0003429HP:0003429CNS hypomyelination0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0003429HP:0003429CNS hypomyelination0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0003429HP:0003429CNS hypomyelination0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003429HP:0003429CNS hypomyelination0DDOST CL E G H1650300536ORPHA11792728602202
HP:0003429HP:0003429CNS hypomyelination0DDOST CL E G H1650300536ORPHA11542728602202
HP:0003429HP:0003429CNS hypomyelination0GAN CL E G H8139643ORPHA15334137605379
HP:0003429HP:0003429CNS hypomyelination0GAN CL E G H8139643ORPHA15944137605379
HP:0003429HP:0003429CNS hypomyelination0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0003429HP:0003429CNS hypomyelination0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0003429HP:0003429CNS hypomyelination0GJC2 CL E G H57165320401ORPHA117417494608803
HP:0003429HP:0003429CNS hypomyelination0GJC2 CL E G H57165320401ORPHA122117494608803
HP:0003429HP:0003429CNS hypomyelination0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12074341138290
HP:0003429HP:0003429CNS hypomyelination0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM11924341138290
HP:0003429HP:0003429CNS hypomyelination0NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0003429HP:0003429CNS hypomyelination0NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0003429HP:0003429CNS hypomyelination0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM13428855601789
HP:0003429HP:0003429CNS hypomyelination0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM12348855601789
HP:0003429HP:0003429CNS hypomyelination0POLR1C CL E G H953388637ORPHA1101920194610060
HP:0003429HP:0003429CNS hypomyelination0POLR1C CL E G H953388637ORPHA1113120194610060
HP:0003429HP:0003429CNS hypomyelination0POLR3A CL E G H1112888637ORPHA165430074614258
HP:0003429HP:0003429CNS hypomyelination0POLR3A CL E G H11128447896ORPHA165430074614258
HP:0003429HP:0003429CNS hypomyelination0POLR3A CL E G H1112888637ORPHA148430074614258
HP:0003429HP:0003429CNS hypomyelination0POLR3A CL E G H11128447896ORPHA148430074614258
HP:0003429HP:0003429CNS hypomyelination0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0003429HP:0003429CNS hypomyelination0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0003429HP:0003429CNS hypomyelination0POLR3B CL E G H5570388637ORPHA129730348614366
HP:0003429HP:0003429CNS hypomyelination0POLR3B CL E G H5570388637ORPHA132630348614366
HP:0003429HP:0003429CNS hypomyelination0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0003429HP:0003429CNS hypomyelination0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0003429HP:0003429CNS hypomyelination0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13299701600473
HP:0003429HP:0003429CNS hypomyelination0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13129701600473
HP:0003429HP:0003429CNS hypomyelination0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0003429HP:0003429CNS hypomyelination0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0003429HP:0003429CNS hypomyelination0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM19751603727
HP:0003429HP:0003429CNS hypomyelination0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0003429HP:0003429CNS hypomyelination0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0003429HP:0003429CNS hypomyelination0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM112695603690
HP:0003429HP:0003429CNS hypomyelination0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM110195603690
HP:0003429HP:0003429CNS hypomyelination0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM19930587608241
HP:0003429HP:0003429CNS hypomyelination0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM13430587608241
HP:0003429HP:0003429CNS hypomyelination0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1153211273182810
HP:0003429HP:0003429CNS hypomyelination0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1134111273182810
HP:0003429HP:0003429CNS hypomyelination0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM130311581604649
HP:0003429HP:0003429CNS hypomyelination0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM136211581604649
HP:0003429HP:0033846Spinal hypomyelination1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0003429HP:0006808Cerebral hypomyelination1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0003429HP:0033846Spinal hypomyelination1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0003429HP:0033846Spinal hypomyelination1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0003429HP:0006808Cerebral hypomyelination1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0003429HP:0006808Cerebral hypomyelination1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0003429HP:0033846Spinal hypomyelination1AHCY CL E G H19188618ORPHA1113343180960
HP:0003429HP:0006808Cerebral hypomyelination1AHCY CL E G H19188618ORPHA1126343180960
HP:0003429HP:0006808Cerebral hypomyelination1AHCY CL E G H19188618ORPHA1113343180960
HP:0003429HP:0033846Spinal hypomyelination1AHCY CL E G H19188618ORPHA1126343180960
HP:0003429HP:0006808Cerebral hypomyelination1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0003429HP:0033846Spinal hypomyelination1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0003429HP:0033846Spinal hypomyelination1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0003429HP:0006808Cerebral hypomyelination1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0003429HP:0033846Spinal hypomyelination1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0003429HP:0006808Cerebral hypomyelination1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0003429HP:0006808Cerebral hypomyelination1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0003429HP:0033846Spinal hypomyelination1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0003429HP:0033846Spinal hypomyelination1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003429HP:0006808Cerebral hypomyelination1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003429HP:0033846Spinal hypomyelination1DDOST CL E G H1650300536ORPHA11542728602202
HP:0003429HP:0006808Cerebral hypomyelination1DDOST CL E G H1650300536ORPHA11792728602202
HP:0003429HP:0006808Cerebral hypomyelination1DDOST CL E G H1650300536ORPHA11542728602202
HP:0003429HP:0033846Spinal hypomyelination1DDOST CL E G H1650300536ORPHA11792728602202
HP:0003429HP:0006808Cerebral hypomyelination1GAN CL E G H8139643ORPHA15334137605379
HP:0003429HP:0033846Spinal hypomyelination1GAN CL E G H8139643ORPHA15944137605379
HP:0003429HP:0033846Spinal hypomyelination1GAN CL E G H8139643ORPHA15334137605379
HP:0003429HP:0006808Cerebral hypomyelination1GAN CL E G H8139643ORPHA15944137605379
HP:0003429HP:0006808Cerebral hypomyelination1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0003429HP:0006808Cerebral hypomyelination1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0003429HP:0033846Spinal hypomyelination1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0003429HP:0033846Spinal hypomyelination1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0003429HP:0006808Cerebral hypomyelination1GJC2 CL E G H57165320401ORPHA117417494608803
HP:0003429HP:0033846Spinal hypomyelination1GJC2 CL E G H57165320401ORPHA122117494608803
HP:0003429HP:0033846Spinal hypomyelination1GJC2 CL E G H57165320401ORPHA117417494608803
HP:0003429HP:0006808Cerebral hypomyelination1GJC2 CL E G H57165320401ORPHA122117494608803
HP:0003429HP:0033846Spinal hypomyelination1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12074341138290
HP:0003429HP:0033846Spinal hypomyelination1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM11924341138290
HP:0003429HP:0006808Cerebral hypomyelination1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12074341138290
HP:0003429HP:0006808Cerebral hypomyelination1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM11924341138290
HP:0003429HP:0006808Cerebral hypomyelination1NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0003429HP:0033846Spinal hypomyelination1NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0003429HP:0033846Spinal hypomyelination1NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0003429HP:0006808Cerebral hypomyelination1NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0003429HP:0033846Spinal hypomyelination1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM13428855601789
HP:0003429HP:0033846Spinal hypomyelination1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM12348855601789
HP:0003429HP:0006808Cerebral hypomyelination1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM13428855601789
HP:0003429HP:0006808Cerebral hypomyelination1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM12348855601789
HP:0003429HP:0006808Cerebral hypomyelination1POLR1C CL E G H953388637ORPHA1101920194610060
HP:0003429HP:0033846Spinal hypomyelination1POLR1C CL E G H953388637ORPHA1113120194610060
HP:0003429HP:0033846Spinal hypomyelination1POLR1C CL E G H953388637ORPHA1101920194610060
HP:0003429HP:0006808Cerebral hypomyelination1POLR1C CL E G H953388637ORPHA1113120194610060
HP:0003429HP:0033846Spinal hypomyelination1POLR3A CL E G H1112888637ORPHA148430074614258
HP:0003429HP:0033846Spinal hypomyelination1POLR3A CL E G H11128447896ORPHA148430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3A CL E G H1112888637ORPHA165430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3A CL E G H11128447896ORPHA165430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3A CL E G H1112888637ORPHA148430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3A CL E G H11128447896ORPHA148430074614258
HP:0003429HP:0033846Spinal hypomyelination1POLR3A CL E G H1112888637ORPHA165430074614258
HP:0003429HP:0033846Spinal hypomyelination1POLR3A CL E G H11128447896ORPHA165430074614258
HP:0003429HP:0033846Spinal hypomyelination1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0003429HP:0033846Spinal hypomyelination1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0003429HP:0006808Cerebral hypomyelination1POLR3B CL E G H5570388637ORPHA129730348614366
HP:0003429HP:0033846Spinal hypomyelination1POLR3B CL E G H5570388637ORPHA132630348614366
HP:0003429HP:0033846Spinal hypomyelination1POLR3B CL E G H5570388637ORPHA129730348614366
HP:0003429HP:0006808Cerebral hypomyelination1POLR3B CL E G H5570388637ORPHA132630348614366
HP:0003429HP:0006808Cerebral hypomyelination1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0003429HP:0006808Cerebral hypomyelination1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0003429HP:0033846Spinal hypomyelination1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0003429HP:0033846Spinal hypomyelination1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0003429HP:0006808Cerebral hypomyelination1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13299701600473
HP:0003429HP:0006808Cerebral hypomyelination1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13129701600473
HP:0003429HP:0033846Spinal hypomyelination1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13299701600473
HP:0003429HP:0033846Spinal hypomyelination1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13129701600473
HP:0003429HP:0006808Cerebral hypomyelination1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0003429HP:0033846Spinal hypomyelination1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0003429HP:0033846Spinal hypomyelination1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0003429HP:0006808Cerebral hypomyelination1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0003429HP:0033846Spinal hypomyelination1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM19751603727
HP:0003429HP:0006808Cerebral hypomyelination1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM19751603727
HP:0003429HP:0006808Cerebral hypomyelination1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0003429HP:0006808Cerebral hypomyelination1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0003429HP:0033846Spinal hypomyelination1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0003429HP:0033846Spinal hypomyelination1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0003429HP:0033846Spinal hypomyelination1SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM112695603690
HP:0003429HP:0033846Spinal hypomyelination1SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM110195603690
HP:0003429HP:0006808Cerebral hypomyelination1SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM112695603690
HP:0003429HP:0006808Cerebral hypomyelination1SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM110195603690
HP:0003429HP:0006808Cerebral hypomyelination1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM19930587608241
HP:0003429HP:0006808Cerebral hypomyelination1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM13430587608241
HP:0003429HP:0033846Spinal hypomyelination1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM19930587608241
HP:0003429HP:0033846Spinal hypomyelination1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM13430587608241
HP:0003429HP:0006808Cerebral hypomyelination1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1153211273182810
HP:0003429HP:0006808Cerebral hypomyelination1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1134111273182810
HP:0003429HP:0033846Spinal hypomyelination1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1153211273182810
HP:0003429HP:0033846Spinal hypomyelination1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1134111273182810
HP:0003429HP:0006808Cerebral hypomyelination1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM130311581604649
HP:0003429HP:0033846Spinal hypomyelination1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM136211581604649
HP:0003429HP:0033846Spinal hypomyelination1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM130311581604649
HP:0003429HP:0006808Cerebral hypomyelination1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM136211581604649
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003429HP:0003429CNS hypomyelination0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM07929239610621
HP:0003429HP:0003429CNS hypomyelination0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM06129239610621
HP:0003429HP:0003429CNS hypomyelination0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM013109413600899
HP:0003429HP:0003429CNS hypomyelination0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM09839413600899
HP:0003429HP:0003429CNS hypomyelination0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM056618119613940
HP:0003429HP:0003429CNS hypomyelination0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM046718119613940
HP:0003429HP:0003429CNS hypomyelination0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM057325751614138
HP:0003429HP:0003429CNS hypomyelination0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM067325751614138
HP:0003429HP:0033846Spinal hypomyelination1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM06129239610621
HP:0003429HP:0006808Cerebral hypomyelination1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM07929239610621
HP:0003429HP:0006808Cerebral hypomyelination1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM06129239610621
HP:0003429HP:0033846Spinal hypomyelination1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM07929239610621
HP:0003429HP:0033846Spinal hypomyelination1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM013109413600899
HP:0003429HP:0033846Spinal hypomyelination1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM09839413600899
HP:0003429HP:0006808Cerebral hypomyelination1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM013109413600899
HP:0003429HP:0006808Cerebral hypomyelination1PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM09839413600899
HP:0003429HP:0033846Spinal hypomyelination1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM046718119613940
HP:0003429HP:0006808Cerebral hypomyelination1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM056618119613940
HP:0003429HP:0006808Cerebral hypomyelination1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM046718119613940
HP:0003429HP:0033846Spinal hypomyelination1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM056618119613940
HP:0003429HP:0006808Cerebral hypomyelination1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM057325751614138
HP:0003429HP:0033846Spinal hypomyelination1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM067325751614138
HP:0003429HP:0033846Spinal hypomyelination1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM057325751614138
HP:0003429HP:0006808Cerebral hypomyelination1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM067325751614138


Genes (42) :AARS ADSL AHCY ATP6V1A BCAP31 CNTNAP1 DARS DDOST EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 FAM126A GAN GDAP1 GJC2 GLUL INTU NKX6-2 PEX13 PHGDH POLR1C POLR3A POLR3B PRKDC PURA PYCR2 QARS RARS RMND1 SLC25A12 SLC33A1 SNIP1 SOX10 SPATA5 SPTAN1 STXBP1 TBCD TRAPPC11 TUBB4A VPS11

Diseases (41) :616339 103050 88618 618012 618186 615281 300536 643 214400 320401 610015 617926 527497 614883 88637 447896 607694 615966 616158 616420 615760 614922 614482 614501 616577 613477 617193 615356 369939 300475 603896 85163 608804 79351 614381 438114 612949 611584 612164 612438 616683
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.