TaoMedAI/RareMedData huggingface dataset:
Gene: EPM2A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Inability to walk (HP:0002540)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Erratic myoclonus (HP:0025357)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Severe photosensitivity (HP:0007537)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Apraxia (HP:0002186)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Visual hallucination (HP:0002367)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Headache (HP:0002315)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Depression (HP:0000716)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Emotional lability (HP:0000712)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Dementia (HP:0000726)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Dementia (HP:0000726)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Psychosis (HP:0000709)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Lafora bodies (HP:0100318)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Lafora bodies (HP:0100318)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Vegetative state (HP:0031358)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Visual loss (HP:0000572)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: AIMP2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Hirsutism (HP:0001007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Death in infancy (HP:0001522)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Growth delay (HP:0001510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: AIMP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Gene: SEM1
Phenotype: Split hand (HP:0001171)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: SEM1
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TUSC3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Gene: TUSC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Gene: TUSC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Gene: TUSC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Gene: TUSC3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Gene: TUSC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Gene: KAT6A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Poor speech (HP:0002465)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Prominent antitragus (HP:0008593)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Long thorax (HP:0100818)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Seizure (HP:0001250)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Seizure (HP:0001250)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Low-set nipples (HP:0002562)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Sparse medial eyebrow (HP:0025325)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Enlarged proximal interphalangeal joints (HP:0006185)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Dystonia (HP:0001332)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Dystonia (HP:0001332)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Absent speech (HP:0001344)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Cleft palate (HP:0000175)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Cleft palate (HP:0000175)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Wide mouth (HP:0000154)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Freckling (HP:0001480)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Dysphagia (HP:0002015)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Gait imbalance (HP:0002141)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Insomnia (HP:0100785)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Esodeviation (HP:0020045)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Low hanging columella (HP:0009765)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Amblyopia (HP:0000646)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Deviation of the hallux (HP:0010051)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Short stature (HP:0004322)
Associated disease: KAT6A syndrome; Arboleda-Tham syndrome; KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
Gene: KAT6A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Upper eyelid edema (HP:0012724)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Gene: KAT6A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)