Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [ncbi.nlm.nih.gov]

The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3. [medlineplus.gov]

• Developmental Delay

  delay Gray matter heterotopia Hydrocephalus Hypoplasia of the brainstem Occipital encephalocele Seizure Spasticity Ventriculomegaly IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide [ncbi.nlm.nih.gov]

  delay; Hypertonia; Nystagmus; Absent speech; Microcephaly; Strabismus Lissencephaly; Global developmental delay; Seizure; Primary microcephaly Lissencephaly; Microcephaly Lissencephaly; Polymicrogyria Lissencephaly; Thick corpus callosum Martsolf syndrome [clinvarminer.genetics.utah.edu]

• Swelling

  Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [ncbi.nlm.nih.gov]

• Strabismus

  […] a Dandy-Walker malformation as major feature Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly; Abnormal facial shape; Epileptic spasm Lissencephaly; Global developmental delay; Hypertonia; Nystagmus; Absent speech; Microcephaly; Strabismus [clinvarminer.genetics.utah.edu]

• Suggestibility

  The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985). [ncbi.nlm.nih.gov]

• Global Developmental Delay

  developmental delay Gray matter heterotopia Hydrocephalus Hypoplasia of the brainstem Occipital encephalocele Seizure Spasticity Ventriculomegaly IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters [ncbi.nlm.nih.gov]

  developmental delay; Hypertonia; Nystagmus; Absent speech; Microcephaly; Strabismus Lissencephaly; Global developmental delay; Seizure; Primary microcephaly Lissencephaly; Microcephaly Lissencephaly; Polymicrogyria Lissencephaly; Thick corpus callosum [clinvarminer.genetics.utah.edu]

• Encephalopathy

  Baraitser-winter syndrome 2 Cobblestone lissencephaly without muscular or ocular involvement Corpus callosum, agenesis of; Lissencephaly; Microcephaly; Generalized hypotonia Cryptorchidism; Corpus callosum, agenesis of; Lissencephaly Developmental and epileptic encephalopathy [clinvarminer.genetics.utah.edu]

• Ataxia

  Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. [ncbi.nlm.nih.gov]

• Confusion

  Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis [ncbi.nlm.nih.gov]

• Occipital Encephalocele

  Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [ncbi.nlm.nih.gov]

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. Mol Aspects Med. 2016 Oct;51:115-24. doi: 10.1016/j.mam.2016.07.003. Epub 2016 Jul 12. Review. [medlineplus.gov]

Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. [medlineplus.gov]