Phenotype #0000347744

Individual ID 00460018
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD7
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth length 48cm (−2SD), weight 3195g (−1SD), OFC 33cm (<−2SD); severe intellectual disability; intra-uterine growth retardation; febrile seizures; limited spacial skills, no speech; primary microcephaly; slender posture; neonatal feeding problems; no periods hyperextension neck; bitemporal narrowing; large/simple ear, deep-set eyes, pointed nose, no micrognathia; breast aplasia; no scoliosis/kyphosis, no pectus excavatum; MRI brain mild atrophy, no structural changes; no inguinal hernia; no cardiac defect; no short distal phalanges
Age/Examination 33y (33 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 2025-01-17 13:11:52 +01:00 (CET)
Date last edited N/A

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