TaoMedAI/RareMedData huggingface dataset:
Gene: ADGRL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Overweight (HP:0025502)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: NLRP1
Phenotype: Atrophodermia vermiculata (HP:0100837)
Associated disease: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL (OMIM:618803)
Gene: NLRP1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
Gene: NLRP1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Cutaneous macular amyloidosis (HP:0032347)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL (OMIM:618803)
Gene: NLRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Severely increased total eosinophil count (HP:0032061)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Parakeratosis (HP:0001036)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Vitiligo (HP:0001045)
Associated disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
Gene: NLRP1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL (OMIM:618803)
Gene: NLRP1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Photophobia (HP:0000613)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Carcinoma (HP:0030731)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Laryngeal papilloma (HP:0033001)
Associated disease: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL (OMIM:618803)
Gene: NLRP1
Phenotype: Laryngeal papilloma (HP:0033001)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Dry skin (HP:0000958)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Growth delay (HP:0001510)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Amyloidosis (HP:0011034)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL (OMIM:618803)
Gene: NLRP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Short neck (HP:0000470)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Gene: NLRP1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: NLRP1
Phenotype: Uveitis (HP:0000554)
Associated disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
Phenotype: Impulsivity (HP:0100710)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Gene: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: CNKSR2
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: FASTKD2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)