Phenotype #0000355417

Individual ID 00470268
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite MRD21
Phenotype details see paper; ..., intra-uterine growth retardation; birth 33w; premature birth; preeclampsia; 12m-sit; 36m-walk; 24m-first word; motor delay; speech delay; self harming behaviors; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG normal; sleep problems; special education; feeding difficulties/failure to thrive; constipation, GERD; bilateral hearing loss; normal vision; no cleft palate/no palatal anomalies; arrhythmia, atrial septal defect; no urogenital anomalies; hip dysplasia, scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth anomalies (no details; no recurrent infections
Inheritance Isolated (sporadic)
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset 5m
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 2025-11-30 10:24:36 +01:00 (CET)
Date last edited N/A

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