Phenotype #0000356910

Individual ID 00472101
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite MRXSSD
Phenotype details see paper; ..., no microcephaly; hypertelosism; low set ears; ear posteriror rotation; broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; no retrognathia; normal behavior; developmental dealy; speech delay; mild intellectual disability; no neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; no seizures
Inheritance Isolated (sporadic)
Age/Examination 7y (7 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 2026-01-08 09:31:31 +01:00 (CET)
Date last edited N/A

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