Clinical Guidance

No genotype-phenotype correlations have been identified.

Source: GeneReviews — "EBF3 Neurodevelopmental Disorder"

Diagnostic Criteria

No consensus clinical diagnostic criteria for EBF3 neurodevelopmental disorder have been published.

Suggestive Findings

EBF3 neurodevelopmental disorder (EBF3-NDD) should be considered in individuals with the following clinical and brain MRI findings and family history. Clinical findings include developmental delay (DD) or intellectual disability (ID) AND any of the following features presenting in infancy or childhood:

Source: GeneReviews — "EBF3 Neurodevelopmental Disorder"

Differential Diagnosis

Because the phenotypic features associated with EBF3 neurodevelopmental disorder are not sufficient to diagnose this condition, all disorders with intellectual disability without other distinctive findings should be considered in the differential diagnosis. See OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, and Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series. Note: Hereditary ataxia syndromes can also be considered in children presenting with developmental delay or intellectual disability in combination with ataxia (see Hereditary Ataxia Overview). In a cohort of 50 children with ataxia, genetic alterations involving EBF3 (including 1 multigene deletion) were identified in three children .

Source: GeneReviews — "EBF3 Neurodevelopmental Disorder"

Management Guidelines

No clinical practice guidelines for EBF3 neurodevelopmental disorder (EBF3-NDD) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with EBF3-NDD, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with EBF3 Neurodevelopmental Disorder

Source: GeneReviews — "EBF3 Neurodevelopmental Disorder"

Clinical Guidance

Ataxia and intellectual disability could result in frequent falls in childhood; supervision of patient activity at home is recommended to limit the risk.

Source: GeneReviews — "EBF3 Neurodevelopmental Disorder"

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 — "EBF3 Neurodevelopmental Disorder"

Surveillance Guidelines

Table 4.

Recommended Surveillance for Individuals with EBF3 Neurodevelopmental Disorder

System/Concern | Evaluation | Frequency

Feeding

| • Measurement of growth parameters

• Eval of nutritional status safety of oral intake

| At each visit

Gastrointestinal

| Monitor for constipation.

Neurologic

| Assess for new manifestations such as ataxia.

Development

| Monitor developmental progress educational needs.

Psychiatric/

Behavioral

| Behavioral assessment for new manifestations incl anxiety, attention, aggressive or self-injurious behavior

Musculoskeletal

| Physical medicine, OT/PT assessment of mobility, self-help skills

Genitourinary

| Follow up of vesicoureteral reflux, renal dysplasia, cryptorchidism | Per treating urologist

Family/

Community

| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) care coordination. | At each visit

OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "EBF3 Neurodevelopmental Disorder"