Phenotype #0000267865

Individual ID 00372551
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details severe developmental delay/intellectual disability; no epilepsy; Cannot control her head; MRI brain normal; no microcephaly; mesomelic dysplasia 4 limbs; Short and bowed radii and ulna, thick ulnae, narrow radii, subluxed left radius, broad tibiae, mildly hypoplastic fibula; Syndactyly of the left 4th and 5th toes, hypoplastic left 4th metatarsal and right 5th metatarsal; 11 pairs of ribs, sacral dimple; normal hips and pelvis; no horseshoe kidney, hypoplastic kidneys; -; failure to thrive; no respiratory problems; Short stature
Inheritance Isolated (sporadic)
Age/Examination 02y (2 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 2021-05-09 15:46:39 +02:00 (CEST)
Date last edited N/A

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