Phenotype #0000241800

Individual ID 00318016
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT72
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., weight 32 kg (-4.9 SD), height 152 cm (-1.6 SD), OFC 51 cm (-3.1 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder; no eye abnormalities; no nose abnormalities; normal mouth; large ears; no hearing loss; no vestibular deficit
Age/Examination 16y (16 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 2020-11-05 17:52:36 +01:00 (CET)
Date last edited 2021-10-28 08:33:00 +02:00 (CEST)

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