TaoMedAI/RareMedData huggingface dataset:
Gene: SETBP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Increased density of long bones (HP:0006392)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Wide distal femoral metaphysis (HP:0006387)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: High palate (HP:0000218)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Ependymoma (HP:0002888)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Myeloid leukemia (HP:0012324)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: High forehead (HP:0000348)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Pointed chin (HP:0000307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypoplasia of first ribs (HP:0006657)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Abnormal nasopharynx morphology (HP:0001739)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Annular pancreas (HP:0001734)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Short neck (HP:0000470)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Short neck (HP:0000470)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Wide nose (HP:0000445)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Metopic suture patent to nasal root (HP:0005495)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Alacrima (HP:0000522)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: CNTNAP2
Phenotype: Poor speech (HP:0002465)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Poor speech (HP:0002465)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Language impairment (HP:0002463)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Receptive language delay (HP:0010863)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Receptive language delay (HP:0010863)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Motor delay (HP:0001270)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Areflexia (HP:0001284)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Seizure (HP:0001250)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Seizure (HP:0001250)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Ataxia (HP:0001251)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Ataxia (HP:0001251)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Spasticity (HP:0001257)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Dystonia (HP:0001332)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Absent speech (HP:0001344)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Absent speech (HP:0001344)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Skin-picking (HP:0012166)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Wide mouth (HP:0000154)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Constipation (HP:0002019)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Short columella (HP:0002000)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Large earlobe (HP:0009748)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Progressive language deterioration (HP:0007064)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Progressive language deterioration (HP:0007064)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Protruding tongue (HP:0010808)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Microdontia (HP:0000691)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Synophrys (HP:0000664)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)