CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs1569231336
rs1569231336 		1.000 0.280 X 18650422 missense variant G/A snv
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.710 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs61749700
rs61749700 		0.882 0.200 X 18584324 missense variant A/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017