Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000297023 Individual ID 00404431 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 37w birth 37w , weight 2.38 kg (-1.04 SD); height 115.6 cm (-1.31 SD), weight 20.3 kg (-1.01 SD), OFC 48.8 cm (-3.21 SD); prior ataxia/dystonia now resolved; global developmental dealy; no facial dysmorphism; no feeding problems; normal skin; no urogenital anomalies; clinically normal;no xrays performed; no hearing loss; normal vision; Previous older sibling stillborn but well grown Inheritance Isolated (sporadic) Age/Examination 7y3m (7 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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