Table 2.

Select Features of PPP2R1A-Related Neurodevelopmental Disorder

Feature# of Persons w/Feature / # AssessedComment
Developmental delay37/37 (100%)Ranging from mild to profound
Language delay37/37 (100%)Some persons remain nonverbal.
Intellectual disability36/37 (97%)Ranging from mild to profound, usually moderate to severe
Delayed walking28/30 (93%)Some persons remain nonambulatory.
Hypotonia32/35 (91%)Persistent into childhood & adulthood in 2 known persons
Corpus callosum hypo-/aplasia22/33 (67%)
Head growth abnormalities22/36 (61%)
 • Macrocephaly12/36 (33%)See Genotype-Phenotype Correlations.
 • Microcephaly10/36 (28%)
Feeding difficulties15/30 (50%)Incl gastroesophageal reflux
Epilepsy17/35 (49%)See Genotype-Phenotype Correlations.
Ventriculomegaly14/33 (42%)Incl hydrocephalus
Joint hypermobility14/37 (38%)
External ear abnormalities11/37 (30%)Incl microtia
Scoliosis9/37 (24%)
Delayed myelination6/33 (18%)
Hypoplasia of cerebellum / brain stem5/33 (15%)
Periventricular leukomalacia4/33 (12%)
Hearing loss4/37 (11%)Incl sensorineural & hearing loss assoc w/microtia
Short stature3/37 (8%)
Persistent ductus arteriosus3/37 (8%)

From: PPP2R1A-Related Neurodevelopmental Disorder

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