TaoMedAI/RareMedData huggingface dataset:
Gene: CRLS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Apnea (HP:0002104)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Hyperorality (HP:0000710)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Fetal pleural effusion (HP:0025676)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: CRLS1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Gene: GTPBP2
Phenotype: Hand clenching (HP:0001188)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Motor delay (HP:0001270)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Dystonia (HP:0001332)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Tremor (HP:0001337)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Dysmetria (HP:0001310)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Fine hair (HP:0002213)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Brittle hair (HP:0002299)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Short nose (HP:0003196)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Substantia nigra hypointensity on susceptibility-weighted imaging (HP:0033048)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Globus pallidus hypointensity on susceptibility-weighted imaging (HP:0033049)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Sparse hair (HP:0008070)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Kyphosis (HP:0002808)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Triangular mouth (HP:0000207)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Protruding ear (HP:0000411)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Cataract (HP:0000518)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Visual impairment (HP:0000505)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: GTPBP2
Phenotype: Myopia (HP:0000545)
Associated disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Gene: P4HTM
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Seizure (HP:0001250)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Hypotonia (HP:0001252)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Inability to walk (HP:0002540)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Hypoventilation (HP:0002791)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Constipation (HP:0002019)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Hypothermia (HP:0002045)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Sleep apnea (HP:0010535)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Unsteady gait (HP:0002317)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Amblyopia (HP:0000646)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Fever (HP:0001945)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Hip contracture (HP:0003273)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Kyphosis (HP:0002808)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Genu valgum (HP:0002857)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Genu valgum (HP:0002857)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Obesity (HP:0001513)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Obesity (HP:0001513)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Astigmatism (HP:0000483)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome; HIDEA syndrome (ORPHA:436141)
Gene: P4HTM
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Exotropia (HP:0000577)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Hypermetropia (HP:0000540)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: P4HTM
Phenotype: Myopia (HP:0000545)
Associated disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Gene: PDP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Seizure (HP:0001250)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Focal hyperintensity of cerebral white matter on MRI (HP:0040328)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Gene: PDP1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: PDP1
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)