Phenotype #0000051395

Individual ID 00065288
Associated disease MGORS
Phenotype details short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), low birth weight (HP:0001518), low weight (HP:0004325), reduced head circumference (HP:0000252), delayed bone age (HP:0002750), frontal bossing (HP:?) or high forehead (HP:0000348), down-slanted palpebral fissures (HP:0000494), posteriorly rotated ears (HP:0000358), upturned nose (HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), no motor delay (-HP:0001270), no speech delay (-HP:0000750), no pulmonary emphysema (-HP:0002097), laryngomalacia (HP:0001601), tracheo-/bronchomalacia (HP:0002786), feeding problems in infancy (HP:0011968), failure to thrive (HP:0001508), gastresophageal reflux (HP:0002020), abnormal genitalia (HP:0010460), hypoplastic labia majora (HP:0000059), trichiasis (HP:0001128), nanophthalmos (HP:0000568)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 00y34m (34 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-26 15:48:10 +02:00 (CEST)
Date last edited 2017-01-06 20:13:57 +01:00 (CET)

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