Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | . | | | 2 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040283 - Occasional | | | 82 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040282 - Frequent | | | 143 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 4 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040283 - Occasional | | | 351 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 434 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040281 - Very frequent | | | 434 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040281 - Very frequent | | | 434 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040283 - Occasional | | | 53 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SRPX2 CL E G H | 27286 | 30668 | OMIM:300643 | Rolandic epilepsy, mental retardation, and speech dyspraxia | . | | | 50 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0011098 | HP:0011098 | Speech apraxia | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | . | | | 2 | | |