Phenotype #0000058638

Individual ID 00078880
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), no mircoretrognathia (-HP:0000308), coarse hair (HP:0002208), no external ear anomalies (-HP:0000356), no joint hypermobility (-HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), truncal ataxia (HP:0002078), autism spectrum disorder (HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), sleep disturbance (HP:0002360); moderate/severe intellectual disability (HP:0001249)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-07-26 21:48:00 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.