TaoMedAI/RareMedData huggingface dataset:
Gene: GPR156
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)
Gene: GPR156
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)
Gene: GPR156
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)
Gene: GPR156
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)
Gene: GPR156
Phenotype: Myopia (HP:0000545)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)
Gene: RNF168
Phenotype: Gait disturbance (HP:0001288)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Ataxia (HP:0001251)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Ataxia (HP:0001251)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Arthritis (HP:0001369)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Specific learning disability (HP:0001328)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Abdominal pain (HP:0002027)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Diarrhea (HP:0002014)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Pneumonia (HP:0002090)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Poor hand-eye coordination (HP:0007057)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Telangiectasia (HP:0001009)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Headache (HP:0002315)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Erythema (HP:0010783)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Clumsiness (HP:0002312)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Recurrent fever (HP:0001954)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Short stature (HP:0004322)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Short stature (HP:0004322)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Emotional lability (HP:0000712)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Dry skin (HP:0000958)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Scaling skin (HP:0040189)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Microcephaly (HP:0000252)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Microcephaly (HP:0000252)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Respiratory failure (HP:0002878)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Bronchitis (HP:0012387)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Otitis media (HP:0000388)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: RIDDLE SYNDROME (OMIM:611943)
Gene: RNF168
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: RNF168
Phenotype: Weight loss (HP:0001824)
Associated disease: RIDDLE syndrome; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency (ORPHA:420741)
Gene: AFG2A
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Hypertonia (HP:0001276)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Spasticity (HP:0001257)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Spasticity (HP:0001257)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Inability to walk (HP:0002540)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Inability to walk (HP:0002540)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Absent speech (HP:0001344)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Absent speech (HP:0001344)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Constipation (HP:0002019)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Exodeviation (HP:0020049)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: High nonceruloplasmin-bound serum copper (HP:0010838)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Severe receptive language delay (HP:0011352)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Short stature (HP:0004322)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)