TaoMedAI/RareMedData huggingface dataset:
Gene: PIGL
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Erythema (HP:0010783)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Drooling (HP:0002307)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Short palm (HP:0004279)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Nystagmus (HP:0000639)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Microdontia (HP:0000691)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Hypodontia (HP:0000668)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Broad 2nd toe (HP:0100040)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Autism (HP:0000717)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cleft lower lip (HP:0010281)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Dry skin (HP:0000958)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Sparse hair (HP:0008070)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Sparse hair (HP:0008070)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Ichthyosis (HP:0008064)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Epicanthus (HP:0000286)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Clinodactyly (HP:0030084)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: High palate (HP:0000218)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Growth abnormality (HP:0001507)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Large for gestational age (HP:0001520)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Growth delay (HP:0001510)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Camptodactyly (HP:0012385)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cupped ear (HP:0000378)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Overfolded helix (HP:0000396)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Thickened helices (HP:0000391)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Round face (HP:0000311)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Short philtrum (HP:0000322)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Short philtrum (HP:0000322)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Short philtrum (HP:0000322)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Strabismus (HP:0000486)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Small nail (HP:0001792)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)