TaoMedAI/RareMedData huggingface dataset:
Gene: GABBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Spasticity (HP:0001257)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Dystonia (HP:0001332)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
Phenotype: Tremor (HP:0001337)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Hand apraxia (HP:0032588)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
Phenotype: Apnea (HP:0002104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Apraxia (HP:0002186)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Loss of speech (HP:0002371)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Small hand (HP:0200055)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Small hand (HP:0200055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Mutism (HP:0002300)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
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: GABBR2
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Agitation (HP:0000713)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Agitation (HP:0000713)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Hyperventilation (HP:0002883)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Growth delay (HP:0001510)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
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: GABBR2
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: GABBR2
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: GABBR2
Phenotype: Short foot (HP:0001773)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Short foot (HP:0001773)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
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: GABBR2
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: GABBR2
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: GABBR2
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: GTF2IRD1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)