TaoMedAI/RareMedData huggingface dataset:
Gene: MEGF10
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Areflexia (HP:0001284)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Seizure (HP:0001250)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Cleft palate (HP:0000175)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Dysphagia (HP:0002015)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Fetal onset (HP:0011461)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: NKX6-2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Head titubation (HP:0002599)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Head titubation (HP:0002599)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Seizure (HP:0001250)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Ataxia (HP:0001251)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Dystonia (HP:0001332)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Abnormal exteroceptive sensation (HP:0033747)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Developmental regression (HP:0002376)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hirsutism (HP:0001007)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Nystagmus (HP:0000639)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Dental crowding (HP:0000678)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hypodontia (HP:0000668)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Synophrys (HP:0000664)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Joint contracture (HP:0034392)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Long face (HP:0000276)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Strabismus (HP:0000486)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Torticollis (HP:0000473)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Gene: NKX6-2
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: NKX6-2
Phenotype: Dysesthesia (HP:0012534)
Associated disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Gene: MCM8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Gene: MCM8
Phenotype: Azoospermia (HP:0000027)
Associated disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)