TaoMedAI/RareMedData huggingface dataset:
Gene: APC2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Tall chin (HP:0400000)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Anxiety (HP:0000739)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Increased arm span (HP:0012771)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Sacrococcygeal teratoma (HP:0030736)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Hip contracture (HP:0003273)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Narrow face (HP:0000275)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Long face (HP:0000276)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Long face (HP:0000276)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Small nail (HP:0001792)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Gene: APC2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Pes planus (HP:0001763)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Prominent nose (HP:0000448)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Phimosis (HP:0001741)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SOTOS SYNDROME 3 (OMIM:617169)
Gene: APC2
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Cataract (HP:0000518)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Small cell lung carcinoma (HP:0030357)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: APC2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: APC2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: APC2
Phenotype: Myopia (HP:0000545)
Associated disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Gene: MARCHF6
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Jerk-locked premyoclonus spikes (HP:0001351)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Enhancement of the C-reflex (HP:0001340)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Middle age onset (HP:0003596)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Hand tremor (HP:0002378)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Nonprogressive (HP:0003680)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Headache (HP:0002315)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: MARCHF6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: MARCHF6
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Gene: KATNB1
Phenotype: Tapered finger (HP:0001182)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Motor delay (HP:0001270)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Seizure (HP:0001250)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Spasticity (HP:0001257)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Wide mouth (HP:0000154)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: 4-layered lissencephaly (HP:0006818)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Synophrys (HP:0000664)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Small forehead (HP:0000350)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)