TaoMedAI/RareMedData huggingface dataset:
Gene: ACBD6
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Postural instability (HP:0002172)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Atonic seizure (HP:0010819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Small hand (HP:0200055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Tics (HP:0100033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Hypertension (HP:0000822)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Edema (HP:0000969)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Obesity (HP:0001513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: High myopia (HP:0011003)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Agenesis of the anterior commissure (HP:0030302)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Wide nose (HP:0000445)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Pancytopenia (HP:0001876)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: COA8
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Motor delay (HP:0001270)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Seizure (HP:0001250)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Proteinuria (HP:0000093)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Vomiting (HP:0002013)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Skeletal muscle steatosis (HP:0040291)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Cavitating leukodystrophy (HP:0033369)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Anemia (HP:0001903)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Progressive leukoencephalopathy (HP:0006980)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Glycosuria (HP:0003076)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Gene: COA8
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Diffuse hepatic steatosis (HP:0006555)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: COA8
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Gene: GFM2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Deep white matter hypodensities (HP:0007321)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Poor head control (HP:0002421)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Seizure (HP:0001250)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Dysarthria (HP:0001260)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Dysarthria (HP:0001260)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: No social interaction (HP:0008763)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Absent speech (HP:0001344)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Pachygyria (HP:0001302)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Open mouth (HP:0000194)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Vomiting (HP:0002013)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)