TaoMedAI/RareMedData huggingface dataset:
Gene: CTNNB1
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Echolalia (HP:0010529)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Chest pain (HP:0100749)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Fibroma (HP:0010614)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Abnormal frontal bone morphology (HP:0430000)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Mild short stature (HP:0003502)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Aphasia (HP:0002381)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Striae distensae (HP:0001065)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Vertigo (HP:0002321)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Headache (HP:0002315)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: CTNNB1
Phenotype: Papilledema (HP:0001085)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Small hand (HP:0200055)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Gene: CTNNB1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Mutism (HP:0002300)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Macular telangiectasia (HP:0030503)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Abnormality of the abdominal wall (HP:0004298)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Palpitations (HP:0001962)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Blindness (HP:0000618)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Conical tooth (HP:0000698)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Macular exudate (HP:0030496)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Increased body weight (HP:0004324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: CTNNB1
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Irritability (HP:0000737)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Anxiety (HP:0000739)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Restlessness (HP:0000711)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Retinal hole (HP:0011530)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hypertension (HP:0000822)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Macular edema (HP:0040049)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Pruritus (HP:0000989)
Associated disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Gene: CTNNB1
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Retinal fold (HP:0008052)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Abnormal hypothalamus morphology (HP:0012286)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Gene: CTNNB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: CTNNB1
Phenotype: Broad finger (HP:0001500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Growth delay (HP:0001510)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Obesity (HP:0001513)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Fatigue (HP:0012378)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Flat face (HP:0012368)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CTNNB1
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Small nail (HP:0001792)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)