TaoMedAI/RareMedData huggingface dataset:
Gene: LMOD1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: ATXN10
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Genetic anticipation (HP:0003743)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Dysmetria (HP:0001310)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Intention tremor (HP:0002080)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Status epilepticus (HP:0002133)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Scanning speech (HP:0002168)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Dyskinesia (HP:0100660)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Apathy (HP:0000741)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Depression (HP:0000716)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Dementia (HP:0000726)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Gene: ATXN10
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: ATXN10
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: SCA10; Spinocerebellar ataxia type 10 (ORPHA:98761)
Gene: MTO1
Phenotype: Poor speech (HP:0002465)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Ascites (HP:0001541)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Bradycardia (HP:0001662)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: MTO1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Gene: TXN2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Poor coordination (HP:0002370)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Progressive (HP:0003676)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Gastrojejunal tube feeding in infancy (HP:0030884)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Retinopathy (HP:0000488)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: TXN2
Phenotype: Retinopathy (HP:0000488)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Gene: TXN2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: COXPD29; Combined oxidative phosphorylation defect type 29 (ORPHA:478029)
Gene: NIPBL
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Syndactyly (HP:0001159)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Sporadic (HP:0003745)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Hypertonia (HP:0001276)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Motor delay (HP:0001270)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Seizure (HP:0001250)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Seizure (HP:0001250)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Volvulus (HP:0002580)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hypotonia (HP:0001252)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Coronal hypospadias (HP:0008743)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Proteinuria (HP:0000093)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)