TaoMedAI/RareMedData huggingface dataset:
Gene: NUP107
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LYRM4
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Poor head control (HP:0002421)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Poor suck (HP:0002033)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Ketosis (HP:0001946)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Mitochondrial swelling (HP:0030774)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Stridor (HP:0010307)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Weak cry (HP:0001612)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: LYRM4
Phenotype: Persistent head lag (HP:0032988)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Gene: DAZ4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ4
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ4
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ4
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ4
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: SLURP1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Nonepidermolytic palmoplantar hyperkeratosis (HP:0007404)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Hyperkeratosis with erythema (HP:0007390)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Autoamputation (HP:0001218)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Congenital symmetrical palmoplantar keratosis (HP:0007553)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Superficial dermal perivascular inflammatory infiltrate (HP:0031190)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Perioral erythema (HP:0033194)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Erythema (HP:0010783)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: SLURP1
Phenotype: Lichenoid skin lesion (HP:0031452)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Transgrediens palmoplantar keratoderma of Siemens; Keratosis palmoplantaris transgrediens of Siemens; Mal de Meleda; Meleda disease (ORPHA:87503)
Gene: SLURP1
Phenotype: Fragile nails (HP:0001808)
Associated disease: MAL DE MELEDA (OMIM:248300)
Gene: TMEM63C
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: TMEM63C
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Gene: JPH2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Death in childhood (HP:0003819)
Associated disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Gene: JPH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Gene: JPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Gene: JPH2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Death in infancy (HP:0001522)
Associated disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Gene: JPH2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Angina pectoris (HP:0001681)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Gene: JPH2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: JPH2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: JPH2
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Gene: JPH2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: JPH2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Gene: GJC2
Phenotype: Poor speech (HP:0002465)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Poor head control (HP:0002421)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Hypoplasia of lymphatic vessels (HP:0003759)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Head titubation (HP:0002599)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Genital edema (HP:0031188)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Varicose veins (HP:0002619)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Constipation (HP:0002019)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Rigidity (HP:0002063)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)