TaoMedAI/RareMedData huggingface dataset:
Gene: SYNE1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Dysmetria (HP:0001310)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Square-wave jerks (HP:0025402)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Gowers sign (HP:0003391)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Babinski sign (HP:0003487)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Back pain (HP:0003418)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Bilateral facial palsy (HP:0430025)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Fasciculations (HP:0002380)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Scapular winging (HP:0003691)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Progressive (HP:0003676)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Clumsiness (HP:0002312)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Arm dystonia (HP:0031960)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Short attention span (HP:0000736)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Fetal onset (HP:0011461)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Myopathy (HP:0003198)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Long face (HP:0000276)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Obesity (HP:0001513)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Congenital knee dislocation (HP:0005191)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Absent muscle fiber emerin (HP:0030117)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Macrotia (HP:0000400)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Strabismus (HP:0000486)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Strabismus (HP:0000486)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Pes cavus (HP:0001761)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Moderate hypermetropia (HP:0031729)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Flat occiput (HP:0005469)
Associated disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC (ORPHA:319332)
Gene: SYNE1
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Ptosis (HP:0000508)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Ptosis (HP:0000508)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)