Global Variome shared LOVD
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Phenotype #0000238235
Individual ID
00307405
Associated disease
?
Diagnosis/Initial
intellectual disability
Diagnosis/Definite
DEE97
Phenotype details
<4y limited speech, <7y two-word sentences; 7m-sitting alone, 11m-walked; intellectual disability; autistic features; no epilepsy; no dysmorphology; mild mitral valve prolapse; no motor/neurological findings; no involuntary movement; mild scoliosis
Inheritance
Isolated (sporadic)
Age/Examination
33y (33 years)
Age/Diagnosis
-
Age/Onset
04y?
Phenotype/Onset
-
Protein
-
Tumor/MSI
-
Diagnosis/Criteria
-
Owner name
Toshiyuki Itai
Database submission
license
Creative Commons Attribution-ShareAlike 4.0 International
Created by
Toshiyuki Itai
Date created
2020-10-07 04:21:07 +02:00 (CEST)
Date last edited
2022-04-07 09:59:35 +02:00 (CEST)
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