Phenotype #0000058641

Individual ID 00078883
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details microcephaly (HP:0000252), no downslanting palpebral fissures (-HP:0000494), epicanthus (HP:0000286), strabismus (HP:0000486), blue sclera in infancy (HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), no everted lower lip (-HP:0000232), no abnormality of the nose (-HP:0000366), no mircoretrognathia (-HP:0000308), small mouth (HP:0000160), plagiocephaly (HP:0001357), synophrys (HP:0000664), low-set ears (HP:0000369), with overfolded helixes (HP:0000396), attached earlobes (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), hernia repair (HP:?), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342)
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 22:13:46 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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