The clinical features of this disease include:
Cerebral anomalies
- Severe cerebral parenchymal thinning with lissencephalic aspect
- Parenchymal rarefaction
- Mild to severe ventriculomegaly
- Cerebellar hypoplasia
- Brainstem dysgenesis (sometimes characterized by a kinking aspect and a flat, elongated pons)
- Prominent germinal matrix
- Corpus callosum agenesis
- White matter neuronal heterotopia
- Hydrocephalus
Head and neck anomalies
- Microcephaly
- Macrocephaly
- Plagiocephaly
- Hypertelorism
- Posteriorly rotated ears
- Low-set ears
- Webbed neck
- Nuchal thickening
- Short nose
- Anteverted nares
- Flattened nasal bridge
- Eye abnormalities (microphthalmia, congenital cataract, blepharophimosis, hypermetropia, strabismus, astigmatism, oculomotor apraxia)
- Mouth abnormalities (high-arched palate, dental crowding, micrognathia, retrognathism)
Musculoskeletal deformities
- Muscle atrophy and hypotonia
- Contractures of large joints
- Arthrogryposis
- Bilateral talipes equinovarus or valgus
- Hallux valgus
- Cleft foot
- Clinodactyly
- Syndactyly of 2nd and 3rd toes
- Hand and foot paretic position
- Hyperflexed wrist
Gastrointestinal anomalies
- Chronic constipation
- Gastroesophageal reflux
- Choanal atresia
- Anorectal malformation
- Malrotated bowel
Urogenital anomalies
- Abnormal kidneys
- Short penis with bulbous shaft
- Scrotum hypoplasia
Heart anomalies
- Tetralogy of Fallot
- Pericardial effusion
- Left heart hypoplasia
- Coarctation of the aorta
- Atrial septal defect
Other possible clinical features
- Early-onset epilepsy
- Skin oedema
- Non-immune hydrops with scalp oedema
- Cystic hygroma
- Pleural effusion
- Peritoneal effusion
- Dilation of lymph vessels in lung
- Dermatitis
- Psoriasis