TaoMedAI/RareMedData huggingface dataset:
Gene: DKC1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DLAT
Phenotype: Poor speech (HP:0002465)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Hypertonia (HP:0001276)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Motor delay (HP:0001270)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Ataxia (HP:0001251)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Dysarthria (HP:0001260)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Abnormal CSF pyruvate family amino acid concentration (HP:0500231)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Dystonia (HP:0001332)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Frog-leg posture (HP:0031139)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Decreased circulating vitamin B1 concentration (HP:0100503)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Babinski sign (HP:0003487)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Infantile onset (HP:0003593)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Esodeviation (HP:0020045)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Drooling (HP:0002307)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Arm dystonia (HP:0031960)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Jerky head movements (HP:0006961)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Anxiety (HP:0000739)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Dementia (HP:0000726)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Persistent head lag (HP:0032988)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Strabismus (HP:0000486)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLAT
Phenotype: Ptosis (HP:0000508)
Associated disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Gene: DLAT
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Gene: DLD
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Hyperisoleucinemia (HP:0010913)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Increased CSF leucine concentration (HP:0500191)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Increased CSF isoleucine concentration (HP:0500193)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Increased CSF valine concentration (HP:0500187)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Encephalopathy (HP:0001298)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Lethargy (HP:0001254)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Lethargy (HP:0001254)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Seizure (HP:0001250)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Seizure (HP:0001250)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hypotonia (HP:0001252)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Ataxia (HP:0001251)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Ataxia (HP:0001251)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Spasticity (HP:0001257)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Death in childhood (HP:0003819)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hepatic failure (HP:0001399)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Dystonia (HP:0001332)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Decreased liver function (HP:0001410)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Vomiting (HP:0002013)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Muscle spasm (HP:0003394)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Elevated circulating branched chain amino acid concentration (HP:0008344)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Atypical behavior (HP:0000708)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Microcephaly (HP:0000252)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Microcephaly (HP:0000252)
Associated disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Gene: DLD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)
Gene: DLD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: E3-deficient maple syrup urine disease; Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency (ORPHA:2394)