Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. [ncbi.nlm.nih.gov]

Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. MalaCards based summary : Mental Retardation, Autosomal Dominant 26, is also known as mrd26. [malacards.org]

Growth failure leading to short stature is sometimes due to a growth hormone deficiency. [findzebra.com]

Clinical features include short stature, low hairline, low-set ears, and webbing of the neck. Gonadal dysfunction resulting in amenorrhoea and sterility is common. [diapedia.org]

A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3. [centogene.com]

Two patients had chronic lung disease, 3 had gastrointestinal reflux and feeding difficulties, and 1 had intestinal malrotation. [findzebra.com]

difficulty, esotropia, nystagmus, central hypotonia Cataract Motor delay Blurred vision, diplopia, choking episodes, limb weakness Chronic bronchitis Axonal sensorimotor polyneuropathy / / / / / / / / / / / / Dysphagia Proximal weakness Atrial hypertrophy [kundoc.com]

Brain malformations cause abnormal muscle tone, spasticity or hypotonia, developmental delay, seizures severe intellectual disability, and feeding difficulties. [intechopen.com]

[…] translation 15q22.31 AR LS [lxx] MTO1 614667 tRNA modification 6q13 AR Cardiomyopathy [lxxi] TRMT5 611023 mitochondrial tRNA methylation 14q23.1 AR Cardiomyopathy/exercise intolerance [lxxii] TRMT10C 615423 TRNA Methyltransferase 3q12.3 AR Hypotonia, feeding [mitomap.org]

Indication/timing: As highlighted above, the indications for nephrectomy include pain/discomfort, space for transplantation, ongoing haematuria, recurrent infections, and gastrointestinal pressure symptoms (early satiety)[ 82, 83 ]. [wjgnet.com]

Citing Literature Number of times cited according to CrossRef: 5 Se Hyun Kim, Soyoung Park, Hyun Sook Yu, Kyung Hee Ko, Hong Geun Park and Yong Sik Kim, The antipsychotic agent clozapine induces autophagy via the AMPK-ULK1-Beclin1 signaling pathway in [doi.org]

This gene is located on the long arm of chromosome 20 (20q13.13). The ANDP gene is involved in the autophagy pathway. Its precise role in this process is under active investigation. This is made by sequencing the ADNP gene. Treatment is symptomatic. [en.wikipedia.org]

[…] t or f: abnormal chromosome structure is insignficant false; can range from insignificant to fatal the long arm of the chromosome is referred to as short arm of the chromosome what are 4 ways that chromosomes could be rearranged 1. translocation 2. inversion [studyblue.com]

(USA) Fragile X syndrome The Fragile X syndrome is caused by a "fragile" site at the end of the long arm of the X-chromosome. It is a genetic disorder that manifests itself through a complex range of behavioural and cognitive phenotypes. [who.int]

This suggests that contiguous gene defects on the long arm of the x chromosome may cause some IGHD III cases. Duriez et al reported that X-linked agammaglobulinemia and IGHD is caused by mutation in the Bruton's tyrosine kinase or BTK gene 6. [analesdepediatria.org]

The disease is caused by the expansion of an unstable CTG repeat located in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on the long arm of chromosome 19 72. [scielo.br]

FEATURES OF WOLF-HIRSCHHORN SYNDROME *Short Philtrum *Immunodeficient *Microcephaly (Small Head Size) *Seizures *Muscle Hypotonia *Renal Anomalies *Deafness 30. Cri Du Chat 31. [slideshare.net]

Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Human Molecular Genetics 22, 656-667. [mitomap.org]

Last update: March 2006 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. [findzebra.com]

Definition A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, [uniprot.org]

Epicanthus, broad nasal bridge, flat face, depressed lower sternum, twelfth rib hypoplasia, fibular hypoplasia, and hallux valgus were other features. [findzebra.com]

The typical facial anomalies of Coffin-Siris syndrome include a wide mouth with thick, everted upper and lower lips, broad nasal bridge with broad nasal tip, thick eyebrows and long eyelashes [ 34 ]. [journals.plos.org]

Systemic Features: The midface is generally flat with underdeveloped maxillary bones and absent or small nasal bones but there may be frontal bossing. The nose appears hypoplastic with a broad, flat root resulting in dystopia canthorum. [disorders.eyes.arizona.edu]

bossing Cardiac or ovarian fibroma Medulloblastoma Lymphomesenteric cysts Congenital malformation: cleft lip and/or palate, polydactyly, congenital ocular anomaly (cataract, microphthalmos, coloboma) *Diagnosis requires two major / one major and two [reviewofophthalmology.com]

The facial dysmorphism is characterized by frontal bossing, a depressed nasal bridge with a short nose and a long and prominent philtrum. Decreased mobility of the elbows and knees is also a common feature. [findzebra.com]

Craniofacial dysmorphism included a prominent metopic ridge, upslanted palpebral fissures, anteverted nares, moderate telecanthus and downturned corners of the mouth with thin lips. [nature.com]

Growth failure, cardiac septal defect, thin lip and asymmetric dysmorphic ears: a new syndrome due to deletion of 6q25?. [doczz.it]

Behavioral symptoms have been described in these individuals, ie, hyperactivity and social withdrawal in approximately 50% and depression in approximately 25%. [emedicine.medscape.com]

Atrophy of the spinal cord Diplopia Strabismus Absence seizures Scanning speech Vertical supranuclear gaze palsy Abnormality of the eye Intellectual disability, mild Pontocerebellar atrophy Gaze-evoked horizontal nystagmus Generalized limb muscle atrophy Hyperactive [mendelian.co]

The disorder is considered chronic and often co-occurs with other mental conditions like depression, attention deficit/hyperactivity disorder, and autism spectrum disorder (ASD). [f1000research.com]

Hyperactivity or attention deficit hyperactivity disease and aggression are commonly seen in patients with TSC [ 12, 25 ]. Kidneys Renal involvement is the second most common cause of early death in individuals with TSC. [omicsonline.org]