Clinical Guidance

No genotype-phenotype correlations have been established.

Source: GeneReviews — "WDR26-Related Intellectual Disability"

Diagnostic Criteria

Formal diagnostic criteria for WDR26-related intellectual disability have not been established.

Suggestive Findings

WDR26-related intellectual disability should be considered in individuals with the following findings :

• Developmental delay or intellectual disability of variable degree

• Characteristic facial features including coarse features, prominent eyes with large-appearing irises, prominent maxilla, broad nasal tip, protruding upper lip, prominent upper gingiva, and widely spaced teeth

• Central hypotonia

• Autistic features

• Seizures: both febrile and non-febrile

• Abnormal wide-based, ataxic, and/or stiff-legged gait

Establishing the Diagnosis

The diagnosis of WDR26-related ID is established in a proband with suggestive clinical features and identification of a heterozygous pathogenic (or likely...

Source: GeneReviews — "WDR26-Related Intellectual Disability"

Differential Diagnosis

Developmental delay with delayed speech and febrile and/or non-febrile seizures, the most frequent features of WDR26-related ID, are relatively common and have an extensive differential diagnosis. The following syndromes with significant phenotypic overlap with WDR26-related ID have been considered in some affected individuals before the diagnosis of WDR26-related ID was established. Table 2. Disorders with Developmental Delay / Intellectual Disability to Consider in the Differential Diagnosis of WDR26-Related Intellectual Disability

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with WDR26-related intellectual disability (ID), the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with WDR26-Related ID

Source: GeneReviews — "WDR26-Related Intellectual Disability"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "WDR26-Related Intellectual Disability"

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with WDR26-Related Intellectual Disability

Source: GeneReviews — "WDR26-Related Intellectual Disability"