Phenotype #0000083825

Individual ID 00105919
Associated disease PPHP
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Unknown
Phenotype details mild macrocephaly (PC= 51cm); Broad forehead; Almond shaped eyes; Depressed nasal bridge; midfacial hypoplasia with mandibular prognathia; acromelic limb shortening; Cafe-au-lait spots (left forearm and left scapula); fetal alcohol syndrome history; short stature (HP:0004322); delayed growth (HP:00001510); flat nasal bridge (HP:0005280); normal teeth; brachydactyly-E (HP:0005863); metacapal short; normal hormone levels; no hpercalciuria (-HP:0002150); intellectual disability (HP:0001249); no obesity (-HP:0001513);
Age/Examination 16y (16 years)
Age/Diagnosis 18y
Age/Onset 06y
Phenotype/Onset 6y
Protein -
Owner name Arrate Pereda
Database submission license No license selected
Created by Arrate Pereda
Date created 2017-06-27 14:43:16 +02:00 (CEST)
Date last edited 2020-05-06 09:34:37 +02:00 (CEST)

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