TaoMedAI/RareMedData huggingface dataset:
Gene: POGZ
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: High palate (HP:0000218)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: High palate (HP:0000218)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Broad finger (HP:0001500)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Obesity (HP:0001513)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Obesity (HP:0001513)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Overfolded helix (HP:0000396)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Ventral hernia (HP:0002933)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Low-set ears (HP:0000369)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Narrow forehead (HP:0000341)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Broad forehead (HP:0000337)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Micrognathia (HP:0000347)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Short philtrum (HP:0000322)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Short philtrum (HP:0000322)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Pointed chin (HP:0000307)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Pointed chin (HP:0000307)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Astigmatism (HP:0000483)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Astigmatism (HP:0000483)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Strabismus (HP:0000486)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Strabismus (HP:0000486)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Short neck (HP:0000470)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Short neck (HP:0000470)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Broad foot (HP:0001769)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Pear-shaped nose (HP:0000447)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Broad toe (HP:0001837)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Ptosis (HP:0000508)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Visual impairment (HP:0000505)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Exotropia (HP:0000577)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Coloboma (HP:0000589)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Hypermetropia (HP:0000540)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Myopia (HP:0000545)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Myopia (HP:0000545)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: PLXND1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Left axis deviation (HP:0033568)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Motor delay (HP:0001270)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLXND1
Phenotype: Open mouth (HP:0000194)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Tachypnea (HP:0002789)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLXND1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Microdontia (HP:0000691)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Autism (HP:0000717)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLXND1
Phenotype: Adrenocortical abnormality (HP:0000849)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Unbalanced atrioventricular canal defect (HP:0011579)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Mitral atresia (HP:0011560)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Single coronary artery origin (HP:0011640)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Cyanosis (HP:0000961)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Single ventricle of indeterminate morphology (HP:0011680)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Abnormal superior vena cava morphology (HP:0025575)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: High palate (HP:0000218)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Miscarriage (HP:0005268)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLXND1
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Tachycardia (HP:0001649)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLXND1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Anomalous origin of the left common carotid artery from the brachiocephalic artery (HP:0031635)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Blepharitis (HP:0000498)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: PLXND1
Phenotype: Absent hand (HP:0004050)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Strabismus (HP:0000486)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: PLXND1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Gene: PLXND1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)