Table 2.

CLPB Deficiency: Frequency of Select Features

FeatureProportion of Persons w/FeatureComment
AR CLPB
deficiency		AD CLPB
deficiency 1
Prenatal manifestations17/32UnknownPolyhydramnios, fetal contractures, IUGR
Altered muscle tone28/325/16
Movement disorder20/320/16
Seizures18/327/16
Brain atrophy14/324/16
DD/ID22/26 27/16
Neutropenia26/3215/16
Cataracts17/322/16
Elevated urinary 3-MGA32/326/16

3-MGA = 3-methylglutaconic acid; AD = autosomal dominant; AR = autosomal or recessive; DD = developmental delay; ID = intellectual disability; IUGR = intrauterine growth restriction

1.

Autosomal dominant CLPB deficiency is caused by specific heterozygous CLPB pathogenic variants (see Genotype-Phenotype Correlations).

2.

Early demise of individuals with autosomal recessive CLPB deficiency may prevent identification of developmental delay / intellectual disability.

From: CLPB Deficiency

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