The lid fissures slant downward and epicanthal folds are with ptosis are generally present. Strabismus and nystagmus are characteristic features. [disorders.eyes.arizona.edu]

Several years later, at the age of 23, he abruptly presented with drop attack, dysarthria, and left hemiparesis. [mdpi.com]

In this study, we present detailed clinical information of 16 novel individuals with biallelic NALCN variants, 1 individual with a heterozygous de novo NALCN missense variant and an interesting clinical phenotype without contractures, and 12 individuals [staffsites.sohag-univ.edu.eg]

Joint contractures (e.g., hip, elbow, knee) can present from an early age. Later-onset scoliosis can be seen. Ongoing physiotherapy, stretching, and bracing improves some of the limitations encountered with contractures and/or scoliosis. [ncbi.nlm.nih.gov]

• High-Pitched Cry

  Seizures, involuntary side-to-side movements of the eyes (nystagmus), eyes that do not point in the same direction (strabismus), and a high-pitched cry can also occur in this disorder. [medlineplus.gov]

  Some also manifest extremity hypertonia and a high-pitched cry. Seizures may develop during infancy or childhood. [ncbi.nlm.nih.gov]

• Crying

  Seizures, involuntary side-to-side movements of the eyes (nystagmus), eyes that do not point in the same direction (strabismus), and a high-pitched cry can also occur in this disorder. [medlineplus.gov]

  Some also manifest extremity hypertonia and a high-pitched cry. Seizures may develop during infancy or childhood. [ncbi.nlm.nih.gov]

• Weight Gain

  Individuals do not have evidence of endocrine anomalies that would account for the poor weight gain. Gastrointestinal features. Constipation is common and has been attributed to hypotonia. Musculoskeletal features. [ncbi.nlm.nih.gov]

• Poor Feeding

  Poor feeding exacerbates the growth restriction; however, tube feedings with a calorie-rich diet generally do not result in weight for age above the 3rd centile. [ncbi.nlm.nih.gov]

• Arachnodactyly

  Angelman syndrome Deficient expression or function of the maternally inherited UBE3A allele Bursts of laughter, macrostomia, tongue protrusion, prognathism, widely spaced teeth, mild cortical atrophy Glass syndrome (OMIM 612313) SATB2 Cleft palate, arachnodactyly [ncbi.nlm.nih.gov]

• Macroglossia

  […] atrophy Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM 616900) TBCK Distinctive facial features incl coarse face, bitemporal narrowing, highly arched eyebrows, deeply set eyes, high nasal bridge w/anteverted nares, macroglossia [ncbi.nlm.nih.gov]

• Widely Spaced Teeth

  spaced teeth, mild cortical atrophy Glass syndrome (OMIM 612313) SATB2 Cleft palate, arachnodactyly, joint laxity, ectodermal anomalies Rett syndrome MECP2 Postnatal microcephaly, seizures, poor growth, esotropia, scoliosis, repetitive behaviors 1. [ncbi.nlm.nih.gov]

• Low-Set Posteriorly Rotated Ears

  /posteriorly rotated ears 10/17 59% Broad nasal bridge 11/19 58% Anteverted nares 11/19 58% Enlarged nares 7/19 37% Short & smooth philtrum 10/13 77% Thin vermilion of upper lip 8/18 44% Tented vermilion of upper lip 10/13 77% Micrognathia 10/19 53% Adapted [ncbi.nlm.nih.gov]

• Small Hand

  Postnatal weight <3rd centile 11/12 92% Postnatal microcephaly 11/19 58% Gastrointestinal Constipation 5/6 83% Musculoskeletal Scoliosis 10/13 77% Joint contractures 10/10 100% Clubfeet 6/9 67% Long, thin fingers 9/9 100% Tapering of distal phalanx 9/9 100% Small [ncbi.nlm.nih.gov]

• Thin Fingers

  fingers 9/9 100% Tapering of distal phalanx 9/9 100% Small hands & feet 5/6 83% Ophthalmologic Strabismus 11/11 100% Nystagmus 2/4 50% Nonspecific facial features Triangular face 16/19 84% Frontal bossing 5/9 56% Downslanted palpebral fissures 10/19 [ncbi.nlm.nih.gov]

• Dolichocephaly

  […] high nasal bridge w/anteverted nares, macroglossia, gingival hyperplasia, & exaggerated cupid's bow; abnormal brain imaging; optic atrophy Phelan-McDermid syndrome Terminal or interstitial deletion of chromosome 22q13.3 Normal or accelerated growth, dolichocephaly [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  nasal bridge 11/19 58% Anteverted nares 11/19 58% Enlarged nares 7/19 37% Short & smooth philtrum 10/13 77% Thin vermilion of upper lip 8/18 44% Tented vermilion of upper lip 10/13 77% Micrognathia 10/19 53% Adapted from Valkanas et al [2016] DD = developmental [ncbi.nlm.nih.gov]

• Focal Seizure

  Seizures may develop during infancy or childhood. Focal seizures, generalized tonic-clonic seizures, myotonic seizures, aclonic seizures, and atypical absence seizures have been described. All respond well to anticonvulsive medications. [ncbi.nlm.nih.gov]

• Behavior Problem

  Behavioral features. Some individuals have behavioral difficulties including repetitive and self-stimulatory behaviors and difficulties with emotional regulation. [ncbi.nlm.nih.gov]

• Profound Intellectual Disability

  People with UNC80 deficiency have profound intellectual disability. Muscle tone is generally weak (hypotonia), but affected individuals may have increased muscle tone (hypertonia) in the arms and legs. [medlineplus.gov]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Up to date, there are no treatments available to patients. [rareepilepsynetwork.org]

Bipolar disorders, Epilepsy, Attention-deficit/Hyperactive disorder; Autism; 13q Syndrome, Alzheimer disease, Alcoholism, Restless leg syndrome, Primary biliary cirrhosis, cancer… HOPE Children with NALCN ion channel-related diseases have no effective treatments [fundacionlibellas.org]

Treatment of Manifestations in Individuals with UNC80 Deficiency Manifestation/Concern Treatment Ocular abnormalities (nystagmus/strabismus) Ophthalmologic management Oral feeding difficulties G-tube feeding Constipation Standard management Orthopedic [ncbi.nlm.nih.gov]

Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants. [disorders.eyes.arizona.edu]

Prognosis. Reported individuals span ages from birth to 15 years [Perez et al 2016, Shamseldin et al 2016, Stray-Pedersen et al 2016, Valkanas et al 2016]. [ncbi.nlm.nih.gov]

The NRG1–ERBB4 signaling pathway has been recently implicated in the pathophysiology of schizophrenia and… 26 Citations References SHOWING 1-10 OF 15 REFERENCES [semanticscholar.org]

Conversely, the depletion of ATXN2 prevents disease progression in ALS. Although ATXN2 interacts directly with RNA, and in ALS pathogenesis there is a crucial role of RNA toxicity, the affected functional pathways remain ill defined. [hal.inserm.fr]

We try to prevent teams from getting early quick looks at the basket; we force them into bad shots and turnovers. We challenge shots. UNC likes to take the ball from you and run or if you miss, the ball is going up the court extremely fast. [tomahawknation.com]

Antiphospholipid antibodies could represent the key of interaction that should be checked even in genetic disorders presenting with stroke, as they could help to address a more specific anticoagulant therapy in order to prevent the evolution of the cerebrovascular [mdpi.com]