Phenotype #0000230652

Individual ID 00303589
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite IDDSADF
Phenotype details birth 40w6d, weight 3487 g; hip dysplasia requiring harness; height 25 centile, weight 2-9 centile, OFC 5.5 cm <0.4th centile; walk-27m; fine motor skills remain delayed; hypotonia (resolved); speech 3y-50 makaton signs, 6.5y some speech, good understanding; 1:1 full time help in mainstream school; glue ear; Large central incisors, downturned mouth, flat broad nose, 2 right ear pits; MRI brain 2y-myelination delayed, resolved by 3 years, slim corpus callosum; normal echo heart, normal renal USS; some excess hair over cheek bones, marked microcephaly
Inheritance Isolated (sporadic)
Age/Examination 8y (8 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 2020-06-16 23:30:21 +02:00 (CEST)
Date last edited N/A

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