TaoMedAI/RareMedData huggingface dataset:
Gene: AP4S1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Spasticity (HP:0001257)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Waddling gait (HP:0002515)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Dystonia (HP:0001332)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Wide mouth (HP:0000154)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Babinski sign (HP:0003487)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Drooling (HP:0002307)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Amblyopia (HP:0000646)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Short stature (HP:0004322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: High palate (HP:0000218)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Overweight (HP:0025502)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Short philtrum (HP:0000322)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Short philtrum (HP:0000322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Strabismus (HP:0000486)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Pes planus (HP:0001763)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Prominent nose (HP:0000448)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4S1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: AP4S1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Gene: LDB3
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Wrist drop (HP:0031189)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Late onset (HP:0003584)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Heart block (HP:0012722)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Ankle weakness (HP:0031374)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Gene: LDB3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: ZASP-related myofibrillar myopathy; Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912)
Gene: LDB3
Phenotype: Endocardial fibrosis (HP:0006685)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: LDB3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LDB3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Gene: ERLIN2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Spasticity (HP:0001257)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ERLIN2
Phenotype: Absent speech (HP:0001344)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Absent speech (HP:0001344)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Gene: ERLIN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Gene: ERLIN2
Phenotype: Macroglossia (HP:0000158)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Macroglossia (HP:0000158)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Gene: ERLIN2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Gene: ERLIN2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)