TaoMedAI/RareMedData huggingface dataset:
Gene: WWOX
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: WWOX
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
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: WWOX
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: WWOX
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: WWOX
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
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: WWOX
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: WWOX
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
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: WWOX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
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: WWOX
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
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: WWOX
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: WWOX
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: WWOX
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: WWOX
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
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: WWOX
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Rigidity (HP:0002063)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Chest pain (HP:0100749)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
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: WWOX
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: WWOX
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Hypokinesia (HP:0002375)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
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: WWOX
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: WWOX
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: WWOX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
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: WWOX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
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: WWOX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
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: WWOX
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: WWOX
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: WWOX
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Cough (HP:0012735)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
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: WWOX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
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: WWOX
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: WWOX
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: WWOX
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
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: WWOX
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)