TaoMedAI/RareMedData huggingface dataset:
Gene: ARID1B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Short sternum (HP:0000879)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Short distal phalanx of the 5th toe (HP:0100391)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Sacral dimple (HP:0000960)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Retrognathia (HP:0000278)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Malar flattening (HP:0000272)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Kyphosis (HP:0002808)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: High palate (HP:0000218)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: High palate (HP:0000218)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Hoarse voice (HP:0001609)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Low-set ears (HP:0000369)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Long philtrum (HP:0000343)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Long philtrum (HP:0000343)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Short chin (HP:0000331)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Short philtrum (HP:0000322)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Astigmatism (HP:0000483)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Strabismus (HP:0000486)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Anonychia (HP:0001798)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Choanal atresia (HP:0000453)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Long eyelashes (HP:0000527)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Sandal gap (HP:0001852)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Ptosis (HP:0000508)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Myopia (HP:0000545)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: KIDINS220
Phenotype: Hand clenching (HP:0001188)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Esophoria (HP:0025312)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Optic nerve dysplasia (HP:0001093)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Dental crowding (HP:0000678)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Fetal onset (HP:0011461)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Fetal onset (HP:0011461)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Full cheeks (HP:0000293)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Gene: KIDINS220
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Gene: KIDINS220
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Gene: KIDINS220
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)