TaoMedAI/RareMedData huggingface dataset:
Gene: AHDC1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Pes cavus (HP:0001761)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Proptosis (HP:0000520)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Ptosis (HP:0000508)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Exotropia (HP:0000577)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Esotropia (HP:0000565)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Esotropia (HP:0000565)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: NFU1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Facial paralysis (HP:0007209)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Encephalopathy (HP:0001298)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Hypertonia (HP:0001276)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Gait disturbance (HP:0001288)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Lethargy (HP:0001254)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Hypotonia (HP:0001252)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Alpha-aminoadipic aciduria (HP:0410309)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Neonatal death (HP:0003811)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Hypoesthesia (HP:0033748)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Scoliosis (HP:0002650)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Decreased activity of mitochondrial respiratory chain (HP:0008972)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Gait ataxia (HP:0002066)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Babinski sign (HP:0003487)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Status epilepticus (HP:0002133)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Clonus (HP:0002169)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Paraplegia (HP:0010550)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Frequent falls (HP:0002359)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Episodic metabolic acidosis (HP:0004911)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Elevated circulating 2-hydroxybutyric acid concentration (HP:0033418)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Nystagmus (HP:0000639)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Fever (HP:0001945)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Acidosis (HP:0001941)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Childhood onset (HP:0011463)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Knee clonus (HP:0011449)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Ankle clonus (HP:0011448)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Motor regression (HP:0033044)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Respiratory failure (HP:0002878)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Strabismus (HP:0000486)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Gene: NFU1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: Ptosis (HP:0000508)
Associated disease:  (OMIM:620938)
Gene: NFU1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease:  (OMIM:620938)
Gene: MMADHC
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Lethargy (HP:0001254)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Seizure (HP:0001250)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Seizure (HP:0001250)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Dystonia (HP:0001332)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Anorexia (HP:0002039)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Homocystinuria (HP:0002156)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Nystagmus (HP:0000639)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Megaloblastic bone marrow (HP:0001980)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Decreased methylmalonyl-CoA mutase activity (HP:0003210)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Pallor (HP:0000980)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Fatigue (HP:0012378)
Associated disease: Methylmalonic acidemia with homocystinuria, type cblD; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; CblD defect; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Gene: MMADHC
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: MMADHC
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Gene: SRPX2
Phenotype: Language impairment (HP:0002463)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)
Gene: SRPX2
Phenotype: Seizure (HP:0001250)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Seizure (HP:0001250)
Associated disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)
Gene: SRPX2
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Spasticity (HP:0001257)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)
Gene: SRPX2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Focal hemifacial clonic seizure (HP:0007332)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: EEG with frontal focal spikes (HP:0012015)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: EEG with parietal focal spikes (HP:0012017)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: EEG with central focal spikes (HP:0012014)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: SRPX2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: SRPX2
Phenotype: Bilateral perisylvian polymicrogyria (HP:0032407)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: SRPX2
Phenotype: Bilateral perisylvian polymicrogyria (HP:0032407)
Associated disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)