Phenotype #0000105068

Individual ID 00132284
Associated disease MCPH5
Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD-0.8); OFC (SD-5.6), length (SD+1.5), weight (SD+0.6); <18m-no walk; speech <3y no first senteence; no epilepsy; WPPSI-III (3.7): FSIQ = 60*/ VIQ = 74/ PIQ = 54/ GCL = 85; MRI brain 3.7y-ventricular enlargement, cerebellar hypoplasia, subcortical hypersignal on T2-weighted images, elongated superior cerebellar peduncles
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 3.7y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Nathalie Pouvreau
Database submission license No license selected
Created by Nathalie Pouvreau
Date created 2017-10-25 11:08:56 +02:00 (CEST)
Date last edited 2023-03-07 17:22:01 +01:00 (CET)

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