Phenotype #0000280744

Individual ID 00386946
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT72
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., weight 16 kg (-3.5 SD), height 114 cm (-2 SD), OFC 46 cm (-5 SD); fetal tachycardia, hydrops fetalis; severe intellectual disability (HP:0010864); no speech; microcephaly; no hypotonia; no epilepsy; spasticity; hand biting, autistic; no eye abnormalities; large nose with broad tip; normal mouth; low-set and posteriorly rotated ears; no hearing loss; no vestibular deficit
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-28 08:42:25 +02:00 (CEST)
Date last edited N/A

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