Phenotype #0000337086

Individual ID 00447894
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite LAMSHF
Phenotype details weight 50th-75th, height 50th-75th, OFC 50th-75th; mild global delays, IQ testing borderline to mild intellectual disability,; low-average nonverbal intelligence; speech delay; no behavior problems; seizures; no brain malformations; articulation difficulties; myopia; dysmorphic features, crowded teeth, high/narrow palate, micrognathia; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities
Inheritance Isolated (sporadic)
Age/Examination 32y (32 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 17:34:58 +01:00 (CET)
Date last edited N/A

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