Phenotype #0000278300

Individual ID 00384515
Associated disease NDD
Diagnosis/Initial behavioral problems, attention deficit/hyperactivity disorder
Diagnosis/Definite MRD26
Phenotype details no low birth weight; no short stature; no microcephaly; no feeding difficulties; no global developmental delay/intellectual disability; autism spectrum disorders/autistic features; no sound sensitivity; hyperactivity/attention deficit/hyperactivity disorder; no generalized hypotonia; no structural brain anomaly; no cerebral palsy, spasticity, high muscle tone; no kyphosis/scoliosis; no arthrogryposis/shallow palmar creases; no tight heel cords; no hernia umbilicalis; no patent foramen ovale/autism spectrum disorders; no highly arched eyebrows; no hypertelorism; no proptosis; no short palpebral fissures; no upslanting palpebral fissures; no ptosis; no epicanthal fold; no strabismus; no prominent nasal tip; no anteverted nares; no deep and/or broad nasal bridge; no short and/or upturned philtrum; no micrognathia/retrognatia; no low-set ears; no earpit; no narrow mouth; oppositional defiant disorder, aggressiveness, tics;2 CAL spots
Inheritance Isolated (sporadic)
Age/Examination 12y1m (12 years, 1 month)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Alexander Groffen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-09-29 14:45:41 +02:00 (CEST)
Date last edited N/A

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