Phenotype #0000281003

Individual ID 00387440
Associated disease MRD26
Phenotype details short stature, microcephaly, feeding difficulties, severe intellectual disability/developmental delay, autism, almost no speech, generalized hypotonia, cerebral palsy/spasticity, ataxic gait, highly arched eyebrows, hypertelorism, proptosis, ptosis, epicanthal fold, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, narrow mouth, prominent lips, hernia umbilicalis/inguinalis
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 05y07m (5 years, 7 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Alexander Groffen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Alexander Groffen
Date created 2021-10-29 12:59:53 +02:00 (CEST)
Date last edited N/A

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