TaoMedAI/RareMedData huggingface dataset:
Gene: NEDD4L
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Proptosis (HP:0000520)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: NEDD4L
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: NEDD4L
Phenotype: Myopia (HP:0000545)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Gene: SASH1
Phenotype: Hyperpigmented/hypopigmented macules (HP:0007441)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 (OMIM:127500)
Gene: SASH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 (OMIM:127500)
Gene: SASH1
Phenotype: Freckling (HP:0001480)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 (OMIM:127500)
Gene: SASH1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Dry skin (HP:0000958)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Scaling skin (HP:0040189)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Alopecia (HP:0001596)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SASH1
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Gene: SZT2
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: High forehead (HP:0000348)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Ptosis (HP:0000508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Gene: SZT2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SZT2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNE1
Phenotype: Hand clenching (HP:0001188)
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: Adducted thumb (HP:0001181)
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: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Myotonia (HP:0002486)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Gene: SYNE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Motor delay (HP:0001270)
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: Motor delay (HP:0001270)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Areflexia (HP:0001284)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Ataxia (HP:0001251)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Gene: SYNE1
Phenotype: Hyporeflexia (HP:0001265)
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: Dysarthria (HP:0001260)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Spasticity (HP:0001257)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Gene: SYNE1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Inability to walk (HP:0002540)
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: Waddling gait (HP:0002515)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ARCA1; Autosomal recessive ataxia, Beauce type; SCAR8; Autosomal recessive cerebellar ataxia type 1 (ORPHA:88644)
Gene: SYNE1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)