TaoMedAI/RareMedData huggingface dataset:
Gene: CPLX1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Split hand (HP:0001171)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Split hand (HP:0001171)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Microtia (HP:0008551)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Sporadic (HP:0003745)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Motor delay (HP:0001270)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Seizure (HP:0001250)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Seizure (HP:0001250)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Seizure (HP:0001250)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Ataxia (HP:0001251)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Ataxia (HP:0001251)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Dysarthria (HP:0001260)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hypospadias (HP:0000047)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Hypoplastic pubic ramus (HP:0008830)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Short upper lip (HP:0000188)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Streak ovary (HP:0010464)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Tethered cord (HP:0002144)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Tethered cord (HP:0002144)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hernia (HP:0100790)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hemangioma (HP:0001028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Short thumb (HP:0009778)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Short thumb (HP:0009778)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Clumsiness (HP:0002312)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Short stature (HP:0004322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Short hallux (HP:0010109)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Short hallux (HP:0010109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Rib fusion (HP:0000902)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Dry skin (HP:0000958)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)