Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. [findzebra.com]

Main clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with [genatlas.medecine.univ-paris5.fr]

[…] expressed in the testis, should be a candidate gene in future studies because the BRDA-NUT fusion oncogenes are critical growth promoters in certain aggressive carcinomas. 102 Alternatively, a more general growth-controlling gene might also explain the prognathism [docplayer.net]

[…] expressed in the testis, should be a candidate gene in future studies because the BRDA-NUT fusion oncogenes are critical growth promoters in certain aggressive carcinomas.102 Alternatively, a more general growth-controlling gene might also explain the prognathism [docslide.com.br]

Main clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with [genatlas.medecine.univ-paris5.fr]

Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively [findzebra.com]

face Not very common - Between 30% and 50% cases Poor speech Commonly - More than 50% cases Underdeveloped nasal alae Not very common - Between 30% and 50% cases Esotropia And 52 more phenotypes. [mendelian.co]

Round face MedGen UID: 116087 • Concept ID: C0239479 • Finding The facial appearance is more circular than usual as viewed from the front. [ncbi.nlm.nih.gov]

Main clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with [genatlas.medecine.univ-paris5.fr]

Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively [findzebra.com]

face Not very common - Between 30% and 50% cases Poor speech Commonly - More than 50% cases Underdeveloped nasal alae Not very common - Between 30% and 50% cases Esotropia And 52 more phenotypes. [mendelian.co]

Round face MedGen UID: 116087 • Concept ID: C0239479 • Finding The facial appearance is more circular than usual as viewed from the front. [ncbi.nlm.nih.gov]

Hyperactivity MedGen UID: 98406 • Concept ID: C0424295 • Finding Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. [ncbi.nlm.nih.gov]

He understood simple commands and had a happy disposition and hyperactivity. The third affected child had global developmental delay, but was less severely affected. At age 4, h... [findzebra.com]

Esch type 7 Cases 85289 X-linked intellectual disability, Vitale type 8 Cases 85290 X-linked intellectual disability, Wilson type 3 Cases 85337 X-linked intellectual disability, Zorick type 6 Cases 85327 X-linked intellectual disability- acromegaly-hyperactivity [azkurs.org]

Supplementation of omega 3 fatty acids may improve hyperactivity, lethargy, and stereotypy in children with autism spectrum disorders: a meta-analysis of randomized controlled trials. Neuropsychiatr Dis Treat. 2017 Oct 4;13:2531-43. [expertomega3.com]

In the latter, a boy with developmental/psychomo-tor delay, autism, hyperactivity, speech delay and hypotonia, the sSMC(8) was present at the highest frequency in blood and the only mitotically stable sSMC in cultured lymphoblastoid B-cell lines. [cyberleninka.ru]

seizures and microcephaly no structural brain abnormalities on magnetic resonance imaging (MRI) [genatlas.medecine.univ-paris5.fr]

Absence seizures MedGen UID: 1385688 • Concept ID: C4316903 • Disease or Syndrome Generalized seizure that manifests in a form of a brief episode of impairment of consciousness with or without accompanying motor phenomena such as clonic-tonic components [ncbi.nlm.nih.gov]

Additional reported signs are early-onset, generalized seizures, short stature, large head circumference, and remarkable behavior (friendly demeanor). The etiology of Fountain syndrome has not been elucidated. [findzebra.com]

Main clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with [genatlas.medecine.univ-paris5.fr]

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 2011 ;130: 517 - 528 46. [nejm.org]