Phenotype #0000280737

Individual ID 00386940
Associated disease MRD26
Phenotype details low birth weight, short stature, microcephaly, feeding difficulties, mild intellectual disability, highly arched eyebrows, hypertelorism, proptosis, short palpebral fissures, ptosis, strabismus, prominent nasal tip, short/upturned philtrum, micro/retrognathia, low set ears, narrow mouth, low columella
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 02y03m (2 years, 3 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Alexander Groffen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Alexander Groffen
Date created 2021-10-27 16:19:00 +02:00 (CEST)
Date last edited N/A

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