TaoMedAI/RareMedData huggingface dataset:
Gene: PIGT
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Scoliosis (HP:0002650)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Scoliosis (HP:0002650)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Open mouth (HP:0000194)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: High, narrow palate (HP:0002705)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Renal cyst (HP:0000107)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Renal cyst (HP:0000107)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Diarrhea (HP:0002014)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Dyspnea (HP:0002094)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Babinski sign (HP:0003487)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Middle age onset (HP:0003596)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Paroxysmal nocturnal hemoglobinuria (HP:0004818)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Headache (HP:0002315)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Nystagmus (HP:0000639)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Nystagmus (HP:0000639)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Jerky head movements (HP:0006961)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Ankle clonus (HP:0011448)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Slender long bone (HP:0003100)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Short nose (HP:0003196)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Inverted nipples (HP:0003186)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Inverted nipples (HP:0003186)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Posterior staphyloma (HP:0030856)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Osteopenia (HP:0000938)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Osteopenia (HP:0000938)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Malar flattening (HP:0000272)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Arthralgia (HP:0002829)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: High palate (HP:0000218)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Obesity (HP:0001513)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Fatigue (HP:0012378)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Low-set ears (HP:0000369)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Long philtrum (HP:0000343)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Long philtrum (HP:0000343)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: High forehead (HP:0000348)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: High forehead (HP:0000348)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Micrognathia (HP:0000347)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)