All individuals with variants in gene CDK13

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00183334 - - - M - - - - - - - ? Tremor (HP:0001337); Ataxia (HP:0001251); Psychomotor deterioration (HP:0002361) 1 1 IMGAG
00288212 Pat22 PubMed: Lee 2019 - - - United States - - - - - ? abnormal EEG, abnormal posturing, absent reflex, absent speech, achalasia, anemia, astigmatism, atopic dermatitis, autistic behavior, brain bleeding, bruising susceptibility, bruxism, developmental delay, developmental regression, dystonia, enlarged tonsils, facial grimacing, feeding difficulties, hand clenching, head bobbing, head drop, hyperhidrosis, hypotonia, increased ast, increased CK, intellectual disability, involuntary movements, joint laxity, kyphoscoliosis, memory impairment, myopia, poor coordination, recurrent infections, scoliosis, sensory impairment, staring gaze, tremor 1 1 Johan den Dunnen
00434048 - - - - - - - - - - - CHDFIDD neurodevelopmental disorder, speech disorder, 5th finger clinodactyly 1 1 Marketa Wayhelova
00435260 261044 - - M no ? (unknown) - - - - - CHDFIDD Intellectual disability, Delayed speech and language development, Poor motor coordination, Agenesis of maxillary lateral incisor 1 1 Andreas Laner
00452791 - - - M - - (not applicable) white - - - - autism HP:0000717, HP:0002342, HP:0004322, HP:0001627, HP:0000505, HP:0000271 1 1 Marketa Wayhelova
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