TaoMedAI/RareMedData huggingface dataset:
Gene: HYLS1
Phenotype: Omphalocele (HP:0001539)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Micromelia (HP:0002983)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Premature birth (HP:0001622)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Broad neck (HP:0000475)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Midline defect of the nose (HP:0004122)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM218
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Antenatal onset (HP:0030674)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Hypopnea (HP:0040213)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Overweight (HP:0025502)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: TMEM218
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM218
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 39 (OMIM:619562)
Gene: MPEG1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Gastroparesis (HP:0002578)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Adult onset (HP:0003581)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Cellulitis (HP:0100658)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: MPEG1
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Gene: LRTOMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
Gene: LRTOMT
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
Gene: LRTOMT
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
Gene: LRTOMT
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
Gene: LRTOMT
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
Gene: CFAP53
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP53
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Congenital onset (HP:0003577)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP53
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP53
Phenotype: Unbalanced atrioventricular canal defect (HP:0011579)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Common atrium (HP:0011565)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP53
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP53
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Gene: CFAP53
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ATOH7
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Epiphora (HP:0009926)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Ultra-low vision with no light perception (HP:0032287)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Angle closure glaucoma (HP:0012109)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Hemorrhage of the eye (HP:0011885)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: ATOH7
Phenotype: Hyphema (HP:0011886)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Gene: ATOH7
Phenotype: Congenital onset (HP:0003577)
Associated disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)