Phenotype #0000337100

Individual ID 00447908
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite LAMSHF
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth height 50th, weight 50th, OFC 25th; moderate motor developmental delay, 17m-walk; mild-moderate intellectual disability; delayed speech, 4y9m-4 words; behavioural anomalies; no hypotonia; no seizures; unsteady gait; sleep disorder; high forehead, down-slanting palpebral fissures, chubby cheeks, notched nares, prominent philtral ridges, open mouth appearance, thin upper lip, drooping lower lip, pointed chin, prominent upper median incisors; 5th finger clinodactyly; chronic constipation; myopia, strabismus; episodes of bronchiolitis
Age/Examination 09y (9 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 10:17:36 +01:00 (CET)
Date last edited N/A

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