TaoMedAI/RareMedData huggingface dataset:
Gene: FBXO28
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: FBXO28
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: FBXO28
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: FBXO28
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Myoclonic status epilepticus (HP:0032667)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: Aspiration (HP:0002835)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
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: FBXO28
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: Chronic constipation (HP:0012450)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
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: FBXO28
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: Esotropia (HP:0000565)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
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: FBXO28
Phenotype: Abnormal conjugate eye movement (HP:0000549)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: RHOBTB2
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Bruxism (HP:0003763)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Areflexia (HP:0001284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Seizure (HP:0001250)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Ataxia (HP:0001251)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Dysarthria (HP:0001260)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Dystonia (HP:0001332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Tremor (HP:0001337)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Flushing (HP:0031284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Constipation (HP:0002019)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Diarrhea (HP:0002014)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Vomiting (HP:0002013)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Rigidity (HP:0002063)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Chorea (HP:0002072)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Anorexia (HP:0002039)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Aspiration (HP:0002835)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: High forehead (HP:0000348)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Macrotia (HP:0000400)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Exotropia (HP:0000577)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: RHOBTB2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Gene: RHOBTB2
Phenotype: Esotropia (HP:0000565)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SYNE2
Phenotype: Myotonia (HP:0002486)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Hypotonia (HP:0001252)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Waddling gait (HP:0002515)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Scoliosis (HP:0002650)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
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: SYNE2
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)