TaoMedAI/RareMedData huggingface dataset:
Gene: PRKCG
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Focal dystonia (HP:0004373)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Facial myokymia (HP:0000317)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCH
Phenotype: Stroke (HP:0001297)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: PRKCH
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: PRKCH
Phenotype: Adult onset (HP:0003581)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: PRKD1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PRKD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PRKD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Microdontia (HP:0000691)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PRKD1
Phenotype: Dry skin (HP:0000958)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Thin skin (HP:0000963)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PRKD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PRKD1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PRKD1
Phenotype: Fragile nails (HP:0001808)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKD1
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Gene: PRKCSH
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Early satiety (HP:0033842)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Renal cyst (HP:0000107)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Dyspnea (HP:0002094)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Dyspnea (HP:0002094)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Back pain (HP:0003418)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Back pain (HP:0003418)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Adult onset (HP:0003581)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Pedal edema (HP:0010741)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Abdominal distention (HP:0003270)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Abdominal distention (HP:0003270)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Jaundice (HP:0000952)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Ascites (HP:0001541)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Gene: PRKCSH
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCSH
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: PRKCZ
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Poor speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Ocular albinism (HP:0001107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Microtia (HP:0008551)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Seizure (HP:0001250)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Polyphagia (HP:0002591)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Joint stiffness (HP:0001387)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hypospadias (HP:0000047)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Absent speech (HP:0001344)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Renal cyst (HP:0000107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Constipation (HP:0002019)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Dysphagia (HP:0002015)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Telangiectasia (HP:0001009)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: High hypermetropia (HP:0008499)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Nystagmus (HP:0000639)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Short stature (HP:0004322)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Macule (HP:0012733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Autism (HP:0000717)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: PRKCZ
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)