TaoMedAI/RareMedData huggingface dataset:
Gene: CFAP43
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Gene: TARS2
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Increased cerebral lipofuscin (HP:0011813)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: TARS2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Gene: NUBPL
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Poor speech (HP:0002465)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Vomiting (HP:0002013)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Strabismus (HP:0000486)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Gene: NUBPL
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NUBPL
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: WDR26
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Narrow naris (HP:0009933)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Seizure (HP:0001250)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Hypotonia (HP:0001252)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Right aortic arch (HP:0012020)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Right aortic arch (HP:0012020)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Absent speech (HP:0001344)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Absent speech (HP:0001344)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Pachygyria (HP:0001302)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Cleft palate (HP:0000175)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Cleft palate (HP:0000175)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Wide mouth (HP:0000154)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Constipation (HP:0002019)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Constipation (HP:0002019)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Spastic gait (HP:0002064)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)