TaoMedAI/RareMedData huggingface dataset:
Gene: ALG14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Waddling gait (HP:0002515)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Gowers sign (HP:0003391)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Thymus hyperplasia (HP:0010516)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Facial palsy (HP:0010628)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Scapular winging (HP:0003691)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Frequent falls (HP:0002359)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Difficulty running (HP:0009046)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Generalized weakness of limb muscles (HP:0009028)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Chylothorax (HP:0010310)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Coarse facial features (HP:0000280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Turricephaly (HP:0000262)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: High palate (HP:0000218)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Death in infancy (HP:0001522)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Abnormal peripheral nervous system synaptic transmission (HP:0030191)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Infantile spasms (HP:0012469)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: Pes planus (HP:0001763)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: SPAG17
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 55 (OMIM:619380)
Gene: SPAG17
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 55 (OMIM:619380)
Gene: SPAG17
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SPAG17
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 55 (OMIM:619380)
Gene: SPAG17
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 55 (OMIM:619380)
Gene: IBA57
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Visual field defect (HP:0001123)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Visual field defect (HP:0001123)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Areflexia (HP:0001284)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Beta-aminoisobutyric aciduria (HP:0032480)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts (HP:6000830)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Progressive (HP:0003676)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Nystagmus (HP:0000639)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Recurrent fever (HP:0001954)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Irritability (HP:0000737)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Retrognathia (HP:0000278)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Microcephaly (HP:0000252)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: High palate (HP:0000218)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: IBA57
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Gene: IBA57
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPG74; Autosomal recessive spastic paraplegia type 74 (ORPHA:468661)
Gene: IBA57
Phenotype: Visual impairment (HP:0000505)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Gene: CFAP221
Phenotype: Congenital pulmonary airway malformation (HP:0010959)
Associated disease: YOUNG SYNDROME (OMIM:279000)
Gene: CFAP221
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Azoospermia (HP:0000027)
Associated disease: YOUNG SYNDROME (OMIM:279000)
Gene: CFAP221
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: YOUNG SYNDROME (OMIM:279000)