TaoMedAI/RareMedData huggingface dataset:
Gene: RSPO2
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Acromelia of the lower limbs (HP:0010494)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Amelia (HP:0009827)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Amelia involving the upper limbs (HP:0009812)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Absent thumb (HP:0009777)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Tetraamelia (HP:0003057)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Aplasia/Hypoplasia involving the pelvis (HP:0009103)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Missing ribs (HP:0000921)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Short clavicles (HP:0000894)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Retrognathia (HP:0000278)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Low-set ears (HP:0000369)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Hypoplastic pulmonary veins (HP:0005304)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Microcornea (HP:0000482)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Cataract (HP:0000518)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEXMIF
Phenotype: Syndactyly (HP:0001159)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Stuttering (HP:0025268)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Hypotonia (HP:0001252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Ataxia (HP:0001251)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Abnormal emotional state (HP:0100851)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Tremor (HP:0001337)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Self-biting (HP:0012169)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Wide mouth (HP:0000154)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Staring gaze (HP:0025401)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Short digit (HP:0011927)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Increased fetal movement (HP:0010519)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Gene: NEXMIF
Phenotype: Tetraparesis (HP:0002273)
Associated disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Gene: NEXMIF
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: NEXMIF
Phenotype: Bulimia (HP:0100739)
Associated disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)