TaoMedAI/RareMedData huggingface dataset:
Gene: IQSEC2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Obesity (HP:0001513)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Obesity (HP:0001513)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Square face (HP:0000321)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Macrotia (HP:0000400)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Strabismus (HP:0000486)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Microcornea (HP:0000482)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Pes planus (HP:0001763)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Pes planus (HP:0001763)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: EEG with centrotemporal focal spike waves (HP:0012557)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Myopia (HP:0000545)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: CDK19
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Wide mouth (HP:0000154)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Hypotelorism (HP:0000601)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Prominent nose (HP:0000448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Gene: CDK19
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CDK19
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: TBC1D2B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Slurred speech (HP:0001350)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: EEG with occipital epileptiform discharges (HP:0033720)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Jaw swelling (HP:0030793)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Gene: TBC1D2B
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)