Phenotype #0000280745

Individual ID 00386947
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT72
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., weight 26 kg (-2.8 SD), height 135 cm (-2.3 SD), OFC 48 cm (-4.7 SD); atrial septal defect type II, pulmonic stenosis; moderate/severe intellectual disability; speech delay , 4–5 word sentences; 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 12y (12 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 2021-10-28 08:46:47 +02:00 (CEST)

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