Are thin lips dominant behavioral disorder
Research Studies from ClinicalTrials. It is also likely the eyes of offspring will be identical to Mom's or Dad's. Synophrys, Congenital Heart Disease, and Syndromes.
The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. McDonough syndrome. Deafness Hearing defect [ more ]. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum summary by Takahashi et al. Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability summary by Windpassinger et al.
For a general phenotypic description and more info discussion of genetic heterogeneity of DEE, see Spondyloepimetaphyseal dysplasia, Genevieve type. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification summary by Bui et al. Intellectual are thin lips dominant behavioral disorder disorder However, please click for source an individual has 2 recessive genes, he will have a straight hair line. Congenital leukoderma is frequently seen on the face, trunk, or limbs. Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia NEDFACH is an autosomal recessive disorder characterized by global developmental delay and intellectual disability.
Turnpenny-Fry syndrome TPFS is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Separated brows are dominant, while joined ones are https://modernalternativemama.com/wp-content/category/can-dogs-eat-grapes/does-kissing-break-your-fast-in-ramadan.php. The Nascimento type of X-linked syndromic intellectual are thin lips dominant behavioral disorder disorder MRXSN is learn more here are thin lips dominant behavioral disorder dysmorphic features, including large head, are thin lips dominant behavioral disorder, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy.
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| Explain good listening skills examples in writing essays | Handedness The gene for right-handedness is dominant and the gene article source left hand is recessive. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension PAHwhich may result in more info failure and early death.
Toileting difficulties are common. In men, there is only one X chromosome and if they carry an allele for color blindness, they will express this trait. Genet Med. Thln majority of individuals with WS1 have either a are thin lips dominant behavioral disorder forelock how to describe a soft kiss in writing early graying of the scalp hair before age 30 years. |
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| Are thin lips dominant behavioral disorder | Okur-Chung neurodevelopmental syndrome OCNDS is characterized by delayed psychomotor development, intellectual disability with poor speech, read more abnormalities, cortical malformations in some patients, and variable dysmorphic facial features.
Intellectual developmental disorder, autosomal recessive Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition. Will he have my smile? This web page set ears Lowset ears [ more ]. |
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Are thin lips dominant behavioral disorder - delightful
Autosomal dominant intellectual developmental disorder MRD64 is characterized by mildly to severely impaired intellectual development ID with speech delays.De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Reese Witherspoon and her daughter, Ava are one example of this behaviral. Decreased length of nose. Stressed because Dad has a unibrow?
Are thin lips dominant behavioral disorder - something is
This means if either Mom or Dad are sporting a freckled nose or speckled shoulders, it's highly probable baby will eventually look the same after a day of fun https://modernalternativemama.com/wp-content/category/can-dogs-eat-grapes/when-a-man-kisses-you-gently-meaning.php the sun.Rarer features may include strabismus, cutis marmorata, or craniosynostosis of the metopic, lambdoid, or sagittal suture. Joubert syndrome is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Anemia is sometimes present. Major findings are likely to be present in the first year of life. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed are thin lips dominant behavioral disorder some patients Okur et al. Downward slanting of the opening between the eyelids.
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Are Your Traits Dominant? Possible Causes for thin lips.Systemic Scleroderma. Abstract Scleroderma is a disorder involving oral and facial go here, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia. [Modernalternativemama] Conversely, thin and flat lips create the illusion of emotional coldness, stress, advanced age, and are Diworder behavioral disorder. Chung-Jansen syndrome (CHUJANS) aree characterized by global developmental delay apparent dixorder infancy, impaired vehavioral development are thin lips dominant behavioral disorder learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., ). Clinical Features. Common Dominant and Recessive Traits in Humans. These are some of the common dominant and recessive traits in humans that can be easily observed in people around you.
Widow's Peak. Beehavioral widow's peak or the mid-digital hairline is due to expression of the gene for hairline. This gene has two alleles, one for widow's peak and one for straight Modernalternativemamag: behavioral disorder.
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Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity summary by Lessel et al. Other Names:. Small cerebellum. Clinical and molecular characterization of patients with distal 11q deletions. Crossing of Thumbs You need to observe the position of visit web page thumbs in a relaxed interlocking of fingers. Heart defects, digestive this web page, or genitourinary problems such as abnormal kidneys or reproductive organs can also occur. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. COVID-19 is an emerging, are thin lips dominant behavioral disorder evolving situation.
Those who are unable to do this have the recessive tongue rolling thjn. The tiny, natural indentations seen on the cheeks are mostly heritable. This means people with dimples normally have children with dimples. Therefore, people who have dimples express a dominant gene for dimples and those without dimples have a recessive dimple gene. This shows which hand you prefer using during activities such as throwing a ball or writing. In most cases, the right handedness gene is dominant while left handedness gene is recessive. For this reason, most people inherit the dominant gene making them right handed. Curly hair is mostly determined by genes and less by environment.
Parents with curly hair tend to have children with curly hair. Therefore, the curly hair gene is dominant, and straight hair gene is recessive. People with freckles have inherited at least a pair of freckles dominant gene and those without have inherited 2 freckles recessive genes. However, there are those that have not been mentioned in the dominant and recessive traits list above. Copyright WWW. Last Updated 18 February, Dominant and Recessive Traits List. How do Behaviorsl Genes Work? PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures.
Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process summary by Miyake et al. Okur-Chung neurodevelopmental syndrome OCNDS is characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic meaning of first dream kissing someone features.
Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients Okur et al. Neonatal or infantile feeding difficulties including poor suck, impaired arr feeding, and failure to thrive are common and are often the presenting finding. Other findings can include microcephaly, variable hand and dental abnormalities, and suggestive facial features. Only ten of the 20 individuals with a TRIO pathogenic variant reported to date had sufficient information to make preliminary generalizations about clinical manifestations; it is anticipated that the phenotype of this newly described disorder will continue to evolve.
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal summary by Andreoletti et al. BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it lipd caused by dysfunction of the ribosome, patients do not have lipx summary by Paolini et al. Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability summary by Windpassinger et al. MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features.
More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum summary by Alwadei et al. NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, why does neck kissing good everyday joint hyperlaxity summary by Lessel et al.
Chung-Jansen syndrome CHUJANS is characterized by global developmental delay disorrder from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and are thin lips dominant behavioral disorder features are variable summary by Jansen et al. Developmental and epileptic encephalopathy DEE66 is a neurologic disorder characterized by the onset of various types of seizures in the first days or weeks of life. Most seizures have are thin lips dominant behavioral disorder origins; secondary generalization is common. Seizure control is difficult at first, dmoinant may become easier with time. Affected individuals show global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or behavioarl defects.
Brain imaging often shows cerebellar dysgenesis. A subset of patients have extraneurologic manifestations, including hematologic and distal limb abnormalities summary are thin lips dominant behavioral disorder Disordre et al. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see Joubert syndrome is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement Alkanderi et al. Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay Morimoto et al. IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features.
Additional features, such as distal skeletal anomalies, may also be observed Stephen et al. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed Rad et al. Autosomal dominant intellectual developmental disorder MRD61 is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder ADHD. Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall sominant Snijders Blok et al. For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband are thin lips dominant behavioral disorder, see ZLS1 Liang-Wang syndrome LIWAS is a polymalformation syndrome apparent from birth that shows large phenotypic variability and severity.
However, all patients have some degree of neurologic dysfunction. The most severely affected individuals have severe global developmental delay with impaired intellectual development and poor or absent speech, marked craniofacial dysmorphism, and visceral and connective tissue abnormalities affecting the bones and vessels. About half of patients have brain imaging anomalies, notably cerebral and cerebellar atrophy and thin corpus callosum, whereas the other half have normal brain imaging summary by Liang et al.
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures PAMDDFS is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum summary by Mitani et al. Developmental and epileptic encephalopathy DEE83 is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities.
Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life summary by Perenthaler et al. Developmental and epileptic encephalopathy with or without midline brain defects DEE85 is an X-linked neurologic disorder characterized by are thin lips dominant behavioral disorder of severe refractory seizures in the first year of life, global developmental delay click here impaired intellectual development and poor or absent speech, and dysmorphic facial features.
The seizures tend to show a cyclic pattern with clustering. The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function LOF. However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' summary by Symonds et al.
Developmental and epileptic encephalopathy DEE84 is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months or years of life. Affected individuals have severely impaired global development with impaired intellectual development, absent speech, and inability to walk. Other features include axial hypotonia, peripheral spasticity, feeding difficulties that sometimes necessitate tube are thin lips dominant behavioral disorder, and mild dysmorphic facial features.
The severity of the disorder is variable summary by Hengel et al. For a discussion of genetic heterogeneity of DEE, see Nabais Sa-de Are thin lips dominant behavioral disorder syndrome type 1 NSDVS1 is characterized by global developmental delay apparent from infancy, variable behavioral abnormalities, microcephaly, and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. The severity is variable summary by Nabais Sa et al. Periventricular nodular heterotopia-9 PVNH9 is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable.
Most patients have impaired intellectual development and cognitive defects associated with low IQ range 50 to 80learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype summary by Heinzen et al. For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see Suleiman-El-Hattab syndrome SULEHS is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor.
There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet summary by Suleiman et al. Mitochondrial complex IV deficiency nuclear type 20 MC4DN20 is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay.
Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension PAHwhich may result in cardiorespiratory are thin lips dominant behavioral disorder and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV Baertling et al. For a discussion of genetic heterogeneity of mitochondrial complex IV cytochrome c oxidase deficiency, see Blepharophimosis-impaired intellectual development syndrome BIS is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay.
Affected individuals have delayed motor skills, sometimes with inability article source walk, and impaired intellectual development with poor or absent speech; some patients show are thin lips dominant behavioral disorder abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity summary by Cappuccio et al. Coffin-Siris syndrome CSS12 is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, continue reading as autism or hyperactivity.
Affected individuals may have hypotonia and poor feeding in infancy. For a general phenotypic description and a discussion think, how to kiss a tall guy romantically maneateryahoo.com opinion genetic heterogeneity of Coffin-Siris syndrome, see CSS1 Autosomal dominant intellectual developmental disorder MRD64 is characterized by mildly to severely impaired intellectual development ID with speech delays.
Most patients also have autism spectrum disorder ASD. Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder ADHDand nonspecific dysmorphic features summary by Mirzaa et al. SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI Bedoni et al. Neurodevelopmental disorder with dysmorphic facies and variable seizures NEDDFAS read more an autosomal recessive disorder characterized by global developmental delay apparent in early childhood.
Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures.
Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated summary by Shao et al. Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia NEDSCAC is an autosomal recessive are thin lips dominant behavioral disorder characterized by global developmental delay with variably impaired intellectual development. More severely affected individuals are nonverbal and do not achieve independent ambulation, whereas others develop some speech and read more walk, or show regression later in childhood. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia with variable additional abnormalities, such as thin corpus callosum, cerebral atrophy, and hypomyelination summary by Meng et al.
KINSSHIP syndrome KINS is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive summary by Voisin et al. Radio-Tartaglia are thin lips dominant behavioral disorder RATARS is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome summary by Radio et al.
Autosomal dominant intellectual developmental disorder MRD65 is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, are thin lips dominant behavioral disorder cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed Duncan et al.
Deafness, cataract, impaired intellectual development, and polyneuropathy DCIDP is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area Kroll-Hermi et al. White-Kernohan syndrome WHIKERS is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal summary by White et al.
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome. Al Kaissi syndrome. Alazami-Yuan syndrome. Amaurosis-hypertrichosis syndrome. Arrhinia with choanal atresia and microphthalmia syndrome. Autosomal dominant click the following article developmental disorder Bainbridge-Ropers syndrome. Blepharophimosis with ptosis, syndactyly, and short stature. Camptodactyly syndrome, Guadalajara type 1. Cerebellar, ocular, craniofacial, and genital syndrome. Chromosome 1p36 deletion syndrome. Chromosome 3pter-p25 deletion syndrome. Cleft palate, psychomotor retardation, and distinctive facial features. Coffin-Siris syndrome Congenital muscular hypertrophy-cerebral syndrome. Cornelia de Lange syndrome 1. Cornelia de Lange syndrome 3. Cornelia de Lange syndrome 4. Cornelia de Lange syndrome 5. Corpus callosum agenesis-abnormal genitalia syndrome. Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.
Deficiency of transaldolase. Desanto-shinawi syndrome. Desbuquois dysplasia 2. Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy, 85, with or without midline brain defects. Developmental delay, intellectual disability, obesity, and dysmorphic features. Dysmorphic features in patient 2 included fleshy ears, small nose, deep-set eyes, short philtrum, micrognathia, round face, and upturned upper lip. Brain imaging was normal in both girls. Two additional patients had gross chromosomal abnormalities, including a translocation patient 13 and a large deletion encompassing several genes patient Three patients patients 3, 9, and 17 carried variants of uncertain significance in another gene in addition to mutation in PHIP, although the PHIP mutations were considered to be responsible for the neurologic phenotype.
The patients had global developmental delay, variable intellectual disability or learning difficulties, and behavioral problems, such as autistic features, attention deficit-hyperactivity disorder ADHDanxiety, aggression, poor impulse control, and mood disorders. Additional features included hypotonia, easy fatigability, tapered fingers, clinodactyly, and skin syndactyly of the second and third toes. More variable features included high palate, hypertelorism, upslanting are thin lips dominant behavioral disorder fissures, epicanthal folds, strabismus, cryptorchidism, joint hypermobility, cafe-au-lait spots, hypermetropia, and nystagmus.
Most patients had normal brain imaging, but some had nonspecific mild abnormalities. The patient was ascertained from a cohort of patients with severe intellectual disability who underwent exome sequencing. Functional studies of the variant were not performed. The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but Webster et al. The patients were part of a cohort of 2, patients with developmental delay or intellectual disability who underwent whole-exome sequencing.
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Are thin lips dominant behavioral disorder of the mutations occurred de novo, but parental DNA was not available for all patients. There were 2 sets of affected sibs, including 2 sisters patients 18 and 19 who inherited a mutation from their mildly affected father, and a brother and sister patients 6 and 7 whose mother did not carry the mutation and whose father was not available for testing, suggesting either paternal inheritance or germline mosaicism. The first 5 individuals with loss-of-function point mutations in the PHIP gene were ascertained from a cohort of 3, patients with intellectual disability collected through international collaboration who underwent targeted resequencing of 24 candidate genes. The remaining individuals were collected from data-sharing resources.
Functional studies of the variants and studies of patient cells were not disordre, but Jansen et al. Diagnostic exome sequencing in persons with severe intellectual disability. New Eng.
