Phenotype #0000058637

Individual ID 00078879
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details no microcephaly (-HP:0000252), 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), anteverted nose (HP:0000463), no mircoretrognathia (-HP:0000308), frontal upsweep (HP:0000308), cleft uvula (HP:0000193), no external ear anomalies (-HP:0000356), joint hypermobility (HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), anteriorly placed anus (HP:0001545), dyspraxia (HP:0011098), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), emotional lability (HP:0000712), no sleep disturbance (-HP:0002360); mild/moderate 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 21:31:16 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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