Phenotype #0000337101

Individual ID 00447909
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite LAMSHF
Inheritance Unknown
Phenotype details see paper; ..., birth height 4th, weight 30th; moderate motor developmental delay, 20m-walk; mild intellectual disability; delayed speech, 3y-first words; no behavioural anomalies; no hypotonia; no seizures; short 3rd phalanges, brachydactyly 2-5th toes, narrow chest, flaring of anterior ribs; intermittent chronic constipation; IgA deficiency
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2024-02-01 10:23:14 +01:00 (CET)
Date last edited N/A

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