Phenotype #0000297028

Individual ID 00404436
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details birth 40w length 49 cm (-0.65 SD)birth 40w length 49 cm (-0.65 SD), weight 2.960 kg (-0.99 SD); height 130.5 cm (-1.92 SD), 11y6m-weight 31.3 kg (-1.08 SD), OFC 11 yrs 6 mnths - 50 cm (-3.26 SD); hypotonia; intellectual disability; deep set eyes, thin upper lip, prognathism; no feeding problems; normal skin; no urogenital anomalies; very pronated/flat feet, mild scoliosis; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning;
Inheritance Isolated (sporadic)
Age/Examination 10y11m (10 years, 11 months)
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 2022-03-02 10:20:20 +01:00 (CET)
Date last edited N/A

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