TaoMedAI/RareMedData huggingface dataset:
Gene: BCKDK
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Language impairment (HP:0002463)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hypoisoleucinemia (HP:0500144)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hypoleucinemia (HP:0500143)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hypovalinemia (HP:0500132)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Decreased CSF isoleucine concentration (HP:0500194)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Decreased CSF leucine concentration (HP:0500190)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Decreased CSF valine concentration (HP:0500188)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Motor delay (HP:0001270)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Seizure (HP:0001250)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hypotonia (HP:0001252)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Ataxia (HP:0001251)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Dystonia (HP:0001332)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Infantile onset (HP:0003593)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Coarse hair (HP:0002208)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Developmental regression (HP:0002376)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Clumsiness (HP:0002312)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hyperactivity (HP:0000752)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Autism (HP:0000717)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Restlessness (HP:0000711)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Childhood onset (HP:0011463)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Dry skin (HP:0000958)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Full cheeks (HP:0000293)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Microcephaly (HP:0000252)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Small forehead (HP:0000350)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Abnormal nasal bridge morphology (HP:0000422)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: BCKDK
Phenotype: Cataract (HP:0000518)
Associated disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Gene: APC2
Phenotype: Large hands (HP:0001176)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Poor speech (HP:0002465)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Hypertonia (HP:0001276)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Seizure (HP:0001250)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Seizure (HP:0001250)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Periventricular ribbonlike heterotopia (HP:0032390)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Tall stature (HP:0000098)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Tremor (HP:0001337)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Narrow palate (HP:0000189)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Flushing (HP:0031284)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Constipation (HP:0002019)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Sparse anterior scalp hair (HP:0004768)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Hemangioma (HP:0001028)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Poor coordination (HP:0002370)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Pedal edema (HP:0010741)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Bilateral camptodactyly (HP:0005617)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)