Table of Contents
Hypotonia Ataxia, Delayed Development Syndrome AKA: EBF3 neurodevelopmental disorder (EBF3-NDD)
- Intellectual disability
- Microcephaly
- Speech delay
- mainly expressive speech delay
- dysarthria
- Gait or truncal ataxia
- Hypotonia
- Behavioral problems
- stereotypic movements (e.g., rotating movements, chewing on clothes, head retropulsion)
- perseverative social behavior
- short attention span
- Facial dysmorphism
- Strabismus: Esotropia
- Deep-set eyes
- Synophrys, Straight eyebrows
- Astigmatism
- Epicanthal folds
- Hypertelorism
- Downslanting palpebral fissures
- Genitourinary
- micropenis
- cryptorchidism
- vesicoureteral reflux
- renal anomalies
- Gastrointestinal abnormalities
- Musculoskeletal abnormalities
- MRI Brain findings
- Cerebellar vermis hypoplasia
- Cerebellar atrophy or hypoplasia
- Small inferior posterior cerebellar lobes and hypoplasia of the posterior vermis with mild prominence of the ventricles and sulci
- Abnormal configuration of cerebellar folia arranged in radial shape