Global Variome shared LOVD

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Phenotype #0000280996 Individual ID 00387433 Associated disease MRD26 Phenotype details short stature, microcephaly, feeding difficulties, moderate intellectual disability/developmental delay, autism, generalized hypotonia, highly arched eyebrows, hypertelorism, proptosis, short and upslanting palpebral fissures, ptosis, strabismus, prominent nasal tip, anteverted nares, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, low set ears, narrow mouth, short forehead, kyphosis/scoliosis, arthrogryposis/shallow palmar creases Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Alexander Groffen Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Alexander Groffen Date created 2021-10-29 12:26:49 +02:00 (CEST) Date last edited N/A

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