TaoMedAI/RareMedData huggingface dataset:
Gene: NIPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Clonus (HP:0002169)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Postural tremor (HP:0002174)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Postural instability (HP:0002172)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Dyslexia (HP:0010522)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Limitation of movement at ankles (HP:0010505)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Insidious onset (HP:0003587)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Poor coordination (HP:0002370)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Memory impairment (HP:0002354)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Short attention span (HP:0000736)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Autism (HP:0000717)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Broad forehead (HP:0000337)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: AGBL1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 (OMIM:615523)
Gene: AGBL1
Phenotype: Corneal guttata (HP:0012038)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 (OMIM:615523)
Gene: AGBL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 (OMIM:615523)
Gene: AGBL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Adult onset (HP:0003581)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 (OMIM:615523)
Gene: AGBL1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Eye movement-induced pain (HP:0030857)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Edema (HP:0000969)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: AGBL1
Phenotype: Visual loss (HP:0000572)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: DNAAF1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Absent inner dynein arms (HP:0012257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Gene: DNAAF1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC78
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Seizure (HP:0001250)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: CCDC78
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Gene: SEPTIN12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Gene: SEPTIN12
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Gene: SEPTIN12
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Gene: SEPTIN12
Phenotype: Abnormal sperm morphology (HP:0012864)
Associated disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Gene: SEPTIN12
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Gene: SEPTIN12
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Gene: EARS2
Phenotype: Poor head control (HP:0002421)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Cholestasis (HP:0001396)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)