Phenotype #0000307189

Individual ID 00415395
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 30w-birth spontaneous vaginal,; had chest tubes after birth; height 99cm (-3.44), weight 12Kg (-4.37)/ OFC: 44cm (-6.3), BMI 12.2 (-2.88); severe intellectual disability (estimated IQ: 20-30); ~60m-walk; not toilet trained; dependent for all cares; ~60m-first words, no expressive or receptive speech; special education; sensory defensiveness, hand flapping; affectionate, anxious; no sleep disturbances; no seizures; MRI brain/spinal normal T2 hyperintensity and volume loss periatrial white matter; hypotonia; venous sinus thrombosis, treated and resolved; no hearing loss; exotropia; suspected pneumothorax in neonatal period; no cardiovascular abnormalities; severe feeding difficulties, fed via gastrostomy, recurrent vomits; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; dolichocephaly, high forehead, bushy eyebrows, exotropia, a prominent tip of the nose, low-set ears, widely spaced prominent eyes; Severe failure to thrive
Inheritance Unknown
Age/Examination 6y0m (6 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 2022-08-13 16:30:49 +02:00 (CEST)
Date last edited N/A

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