Phenotype #0000041507

Individual ID 00054848
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details Motor delay; Anxiety; Concentration problems; Sleep disturbances; Autism; Oral Hypotonia; Unexplained reduced vision; Strabismus; Brachydactyly; Pedes plano valgi; tapering fingers; Fatigue; paroxymal atonia; Normal MRI; Born after 41+2w wit ventouse extraction after uncomplicated pregnancy; Birth weight -1SD; Apgar 5,8, 10 after 1, 5 and 10 minutes respectively; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750)
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Lisenka Vissers
Database submission license No license selected
Created by Lisenka Vissers
Date created 2015-11-27 13:51:24 +01:00 (CET)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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