Phenotype #0000221953

Individual ID 00288216
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details short stature, macrocephaly, failure to thrive, craniosynostosis, broad nasal tip, high anterior hairline, depressed nasal bridge, torticollis, plagiocephaly, epicanthus, highly arched eyebrow, short chin, nystagmus, strabismus, hypertelorism, ptosis, esotropia, prominent fingertip pads, seborrheic dermatitis, hypotonia, delayed skeletal maturation, developmental delay, absent speech, seizures, communicating hydrocephalus, leukoencephalopathy, gait disturbance, inappropriate behavior, hyper oral fixation, ventriculomegaly, periventricular leukomalacia, hoarse voice, feeding difficulties, abdominal distention
Inheritance Familial
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-02-16 14:03:09 +01:00 (CET)
Date last edited N/A

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