Phenotype #0000337095

Individual ID 00447903
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite LAMSHF
Phenotype details weight 25th, height 10th-25th, OFC 75th; developmental delay/intellectual disability; speech delay; compulsive, ritualistic, distractible; severe hypotonia; no seizures; strabismus; optic nerve hypoplasia; mild dysmorphic features, low facial tone, prominent nasal bridge, small alae, broad nasal tip, midline nasal dimple, narrow palate; short fingers & metacarpals; short toes; deviated second fingers; short thumbs; broad great toes; cone-shaped epiphyses on phalanges; normal back/spine; slight arrhythmia; no genital abnormalities
Inheritance Isolated (sporadic)
Age/Examination 9y (9 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 2024-01-31 22:02:27 +01:00 (CET)
Date last edited N/A

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