TaoMedAI/RareMedData huggingface dataset:
Gene: POMT1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: MAB21L2
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Strabismus (HP:0000486)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Pes planus (HP:0001763)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Cataract (HP:0000518)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: MAB21L2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Gene: TXNRD2
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Abnormal response to ACTH stimulation test (HP:0031074)
Associated disease: GLUCOCORTICOID DEFICIENCY 5 (OMIM:617825)
Gene: TXNRD2
Phenotype: Impaired cortisol response to insulin stimulation test (HP:0031076)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUCOCORTICOID DEFICIENCY 5 (OMIM:617825)
Gene: TXNRD2
Phenotype: Hypotension (HP:0002615)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Constipation (HP:0002019)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: GLUCOCORTICOID DEFICIENCY 5 (OMIM:617825)
Gene: TXNRD2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: GLUCOCORTICOID DEFICIENCY 5 (OMIM:617825)
Gene: TXNRD2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Abnormal circulating adrenocorticotropin concentration (HP:0011043)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TXNRD2
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: TXNRD2
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MTHFS
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Atonic seizure (HP:0010819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Fever (HP:0001945)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Short humerus (HP:0005792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Short femur (HP:0003097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Nuchal cord (HP:0012498)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Epiblepharon (HP:0011225)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: MTHFS
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Gene: PRPF8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Asteroid hyalosis (HP:0030672)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)