Phenotype #0000230422

Individual ID 00303345
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; severe intellectual disability; developmental delay, global; motor delay, wheelchair bound, never ambulant, was able to move around on floor when she was younger; speech delay, non verbal, no communication; epilepsy, 7m-clusters of seizures, continues to have approximately weekly brief tonic seizures on leviteracetem and lacosamide; right temporal activity on EEG in first year of life; hypotonia; stereotypies and hyperventilation; sleep disturbances; CT brain first year normal; no regression; very poor hand function, dependent for all activities of daily living; midface hypoplasia and infraorbital creases, broad nasal tip, long smooth philtrum; widely spaced teeth, some conical in shape, all removed due to decay; no hearing abnormalities; registered blind; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; constipation, on movicolon; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (125IU/L)
Inheritance Isolated (sporadic)
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-10 17:04:23 +02:00 (CEST)
Date last edited 2021-04-11 17:04:44 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.