microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. [diseaseinfosearch.org]

Get Update Overview Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus [diseaseinfosearch.org]

Those severely affected individuals at one end of the spectrum may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening [netdoctor.co.uk]

Symptoms of OME may be subtle or absent and manifest only through poor balance, behavioral problems, school performance issues, or limited progress with ongoing speech therapy [doi.org]

[…] or forgetfulness 46.5 (30.4) 60.5 (24.4) *** Feeling disoriented 23.5 (26.0) 35.8 (26.0) *** Slowed speech 22.7 (26.4) 32.8 (26.8) -- Poor coordination 44.3 (29.9) 45.9 [biomedicine.imedpub.com]

* Unable to focus vision and/or attention 35.7 (26.8) 49.7 (24.2) *** Loss of depth perception 19.2 (28.1) 23.6 (29.3) -- Slowness of thought 41.2 (30.2) 57.6 (26.1) *** Absent-mindedness [biomedicine.imedpub.com]

[…] or absent speech development Other known features of SPG47 can include the following (not every child will have these features): short stature late walking and later loss [childrenshospital.org]

[…] increasing spasticity and paralysis in the lower limbs starting in early childhood intellectual disability microcephaly (a smaller than normal head) delayed motor development poor [childrenshospital.org]

Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus,spastics contractures and mental retardation (2). [snpcar.ro]

A characteristic facial appearance, hypotonia, psychomotor retardation and poor or absent speech are suggestive of chromosome 1p36 deletion syndrome, and the diagnosis is [nature.com]

absent speech and is confirmed by detection of a deletion of the most distal band of the short arm of chromosome 1 (1p36). [ncbi.nlm.nih.gov]

Frequency of Major Clinical Findings in 1p36 Deletion Syndrome Findings Frequency Distinctive facial features (see Clinical Diagnosis ) Intellectual disability Poor/absent [ncbi.nlm.nih.gov]

Affected individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. [ghr.nlm.nih.gov]

Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening [ninds.nih.gov]

Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation [medicinenet.com]

/absent speech, dystonia and optic and pituitary defects. [exeterlaboratory.com]

Those severely affected individuals at one end of the spectrum may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening [netdoctor.co.uk]