Phenotype #0000280743

Individual ID 00386945
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT72
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., weight 89 kg (1.9 SD), height 157 cm (-2.7 SD), OFC 51 cm (-2.8 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder, aggressive; no eye abnormalities; over hanging nasal tip; normal mouth shape, dysplastic teeth; large ears; no hearing loss; no vestibular deficit
Age/Examination 31y (31 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 08:37:56 +02:00 (CEST)
Date last edited 2021-10-28 08:39:27 +02:00 (CEST)

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