Phenotype #0000344633

Individual ID 00456114
Associated disease CDLS
Phenotype details - Synophrys (HP:0000664), thick eyebrows (HP:0000574), long philtrum (HP:0000343), thin upper lip vermilion (HP:0000219) with downturned corners of the mouth (HP:0002714), microcephaly (HP:0000252), short fifth finger (HP:0009237).

- Gastroesophageal reflux (HP:0002020).

- Abnormal heart morphology (HP:0001627).

- Absent speech (HP:0002300), hyperactivity (HP:0000752), short attention span (HP:0000736), self-injurious behavior (HP:0100716).
Diagnosis/Initial He was clinically diagnosed with Cornelia de Lange syndrome.
Inheritance Familial, X-linked
Diagnosis/Definite Cornelia de Lange syndrome
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Juan Pié
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Juan Pié
Date created 2024-10-23 19:17:15 +02:00 (CEST)
Date last edited 2024-10-24 11:24:15 +02:00 (CEST)

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