Phenotype #0000284197

Individual ID 00174069
Associated disease CSS
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details no intrauterine growth retardation; short stature (-2.2 SD); developmental delay; difficulties tracking moving target with jerky eye movements, repeated loss of fixation; slightly coarse features, midface hypoplasia, normal spacing of eyes, horizontal palpebral fissures, small, upturned nose, Cupid’s bow, full lower lip; tapering fingers, small nails, bilateral clinodactyly 5th finger; Mild hypotonia, umbilical hernia
Inheritance Familial, autosomal dominant
Age/Examination 22m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-11 15:40:53 +01:00 (CET)
Date last edited N/A

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