Phenotype #0000051330

Individual ID 00065222
Associated disease DRS
Phenotype details Frontal bossing (HP:0002007), High forehead (HP:0000348), Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Cleft upper lip (HP:0000204), cleft palate (HP:0000175), Micrognathia (HP:0000347), Low-set ears (HP:0000369).

Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084)

Cryptorchidism (HP:0000028), Micropenis (HP:0000054)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 00y19m (19 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap