TaoMedAI/RareMedData huggingface dataset:
Gene: PDGFRB
Phenotype: Micrognathia (HP:0000347)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Tibial bowing (HP:0002982)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Pointed chin (HP:0000307)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypermyelinated retinal nerve fibers (HP:0007922)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: PDGFRB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Narrow nose (HP:0000460)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Short foot (HP:0001773)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Proptosis (HP:0000520)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Proptosis (HP:0000520)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Ptosis (HP:0000508)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Long foot (HP:0001833)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDHA1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Lethargy (HP:0001254)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Seizure (HP:0001250)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Seizure (HP:0001250)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Abnormal CSF pyruvate family amino acid concentration (HP:0500231)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Abnormal medullary pyramid morphology (HP:0025361)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Dystonia (HP:0001332)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Dystonia (HP:0001332)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Tremor (HP:0001337)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Myoclonus (HP:0001336)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Basal ganglia necrosis (HP:0012128)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Low APGAR score (HP:0030917)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Gliosis (HP:0002171)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Chronic lactic acidosis (HP:0004925)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Congenital lactic acidosis (HP:0004902)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Blindness (HP:0000618)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Cerebellar gliosis (HP:0012698)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Flared nostrils (HP:0000454)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA1
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Ptosis (HP:0000508)
Associated disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Gene: PDHA1
Phenotype: Talipes (HP:0001883)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: PDHA2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Gene: PDHA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Gene: PDHA2
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Gene: PDHA2
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Gene: PDHA2
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PDHA2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Gene: PDHA2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Gene: PDHB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Gene: PDHB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Gene: PDHB
Phenotype: Seizure (HP:0001250)
Associated disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)