All individuals with variants in gene MAPKAPK5

7 entries on 1 page. Showing entries 1 - 7.
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00414273 Pat1 PubMed: Maroofian 2023 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Pakistan - - - - - NDD decreased foetal movements, PIH in mother; birth at term; height 91cm (-2.3 SD); weight 8kg (-4.8 SD); OFC 43cm (-4.3 SD); hypotonia in infancy; failure-to-thrive; developmental delay, 18m-unsupported sitting, 30m-supported walking, speech delay (can say 2-3 words); no nonverbal communication, understands simple commands like give me; profound developmental dealy/ intellectual disability (8m at 4y); not able to perform basic activities of daily living, GMFCS level IV; speech regression; no progressive course; Aloof behaviour, abnormal hand movements and teeth grinding; no seizures; EEG normal; weakness, hypotonia, diminished reflexes, 18m-ataxia, broad based gait, dyskinetic movements; brachycephaly; sparse scalp hair, bitemporal narrowing, straight eyebrows, deep-set eyes, bilateral ptosis (right>left), epicanthic folds, triangular nose with full tip, hypoplastic nares, low-set columella, prominent medial maxillary incisors, long philtrum, full and tented upper lip, maxillary overbite, microretrognathia; hirsutism, sparse scalp hair; short index finger with absent nail and nail bed, sandal gap; bilateral hyperopia, +2.50, ptosis; mild hearing loss (below 30dB), post-ligual, bilateral sensorineural hearing loss; superior cerebellar vermian and pontine atrophy, along with cerebellar vermian hypoplasia and generalised cerebellar dysfoliation. The frontal lobe was underdeveloped with anterior callosal hypoplasia; no congenital heart defects; no renal problems; no GIT; no respiratory problems; feeding difficulties, can take semi-solids only  1 1 Stephanie Efthymiou
00414274 Pat3 PubMed: Maroofian 2023 5-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Egypt - - - - - NDD oligohydraminos, incucbated for 7 days for tachypnea; 39w-brith, weight (2800gm), length (49cm), OFC (34.7cm); height 83cm (-1 SD); weight 10kg (-2SD); OFC 45.5cm (-2.3SD); hypotonia in infancy; mild failure-to-thrive; mild developmental delay, 9m-head support, 14m-sit, 1y9m-walk for 4-10 meters; no nonverbal communication (able to pronounce few words); moderate developmental dealy/ intellectual disability; not yet able to perform basic activities of daily living; no regression; no progressive course; excessive clapping hands, smiling; no seizures; EEG normal; hypotonia, reflexes present; plagiocephaly, brachycephaly, bifrontal prominent; cranio-facial asymmetry, depression over glabella, sparse eyebrows, bilateral ptosis, shorter left palpebral fissure, hypertelorism, infraorbital creases, full nasal tip, short columella, low-set ears, absent superior crus of antihelix, uplifted ear lobes, small mouth, full tented upper lip, thin lower lip vermilion, maxillary overbite, retrognathia; sparse sclap/eye brows hair, mild hypoplasitc nails; bilateral incomplete transverse palmar crease, normal fingers and nails, mild proximal syndactyly of right second and third fingers, broad big toes, short 2-5th toes, prominent sandal gap with deep groove over medial aspect second toe; mild inconsistent stramismus; no hearing loss; Immaturity of myelination (delayed- or hypo- myelination pattern) along with cerebellar vermian hypoplasia and reduced parenchymal volume in the frontal lobes; no congenital heart defects; abdominal pelvic ultra-sound showed left testis, left inguinal canal, mild left tunical hydrocele; 1d-genital anomalies, anchored phallus, shawl scrotum, absent left tesits; mild feeding difficulties 1 1 Stephanie Efthymiou
00414278 Pat2 PubMed: Maroofian 2023 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Palestine Arab - - - - NDD normal prenatal history; born hypotonic, pale, with no respiratory effort, needed intubation; 37w-birth, weight (1825 g), OFC (28.5 cm); height 120cm (18th); weight 27.9kg (72th); OFC 50.2cm (14th); hypotonia in infancy; no failure-to-thrive; developmental delay, 30m-walk, speech delay (can say sentences yet gibberish); severe developmental dealy/ intellectual disability; not able to perform basic activities of daily living; no regression; no progressive course; no behavioural/psychiatric symptoms; no seizures; no hypotonia; brachycephaly; highly arched eyebrows with medial flaring, narrow palpebral fissures, low-set ears, low columella, small chin; hirsutism; short fingers; bilateral optic disc colobomas; astigmatism; suspected hearing loss; cerebellar vermian hypoplasia and frontal lobar underdevelopment along with hypoplasia of the anterior aspect of corpus callosum. Unspecific foci of white matter hyperintensities were also shown in the frontal lobes; 1d-normal echocardiography; no renal problems; no GIT; no respiratory problems; no feeding difficulties 1 1 Stephanie Efthymiou
00435412 Fam2Pat1 PubMed: Horn 2021 2-generation family, 1 affected, unaffected heterozygous parents M yes Turkey - - - - - NDD 38w-birth, weight 2,600g (-1.6 SD), length 53cm (+0.8 SD), OFC 32.5cm (-1.7 SD); height 82.5cm (-0.4 SD); weight 10.8 kg (-0.6 SD); microcephaly OFC 43.5cm (-4.3 SD); no failure-to-thrive; severe developmental delay, 19m-no sitting/no speech; no seizures; EEG signs of increased seizure susceptibility in the left temporo-occipital region; 10m-profound muscular hypotonia; narrow palpebral fissures, thin lips, high arched palate, retrognathia, uplifted ear lobes, short neck, Pierre-Robin sequence (retrognathia, glossoptosis, high arched palate without cleft), short, narrow, and upslanted palpebral fissures, a small mouth with thin lips, uplifted ear lobes, a short neck, nystagmus; sparse hair; synpolydactyly with additional hypoplastic ray between fourth and fifth digit right foot; cataracts, sclerocornea, nystagmus; bilateral sensorineural hearing loss; thin corpus callosum; complex congenital heart defect including double inlet left ventricle and malposition of great arteries; hypospadias 1 1 Johan den Dunnen
00435413 Fam1Pat1 PubMed: Horn 2021 2-generation family, 2 affected sisters, unaffected heterozygous parents F no Egypt - - - - - NDD intrauterine growth retardation, tetralogy of Fallot; 40w-birth, weight 2,200g (-2.71 SD), length 48 cm (-0.65 SD), OFC 32 cm (−1.9 SD); postnatal short stature, height 112.5cm (-3.49 SD); failure to thrive, weight 16kg (-7.03 SD); OFC 51 cm (-0.68 SD); failure-to-thrive; severe developmental delay, 9y-no walking, 9y-speech one word; no seizures; EEG abnormal findings consistent with generalized epileptogenic discharge of left side origin; bitemporal narrowing, prominent forehead; sparse hair, narrow palpebral fissures, prominent overhanging nasal tip, thin lips, retromicrognathia; synpolydactyly with additional hypoplastic ray between fourth and fifth digits, all extremities are affected, X-ray showed duplication middle and terminal phalanges right fifth finger and duplication terminal phalanx left fifth finger and extra hypoplastic metatarsal and extra phalanx between fourth and fifth toes; Pallor optic disc, postvisual pathway dysfunction; moderate loss of hearing in high frequency range; cerebellar vermian hypoplasia, Frontal underdevelopment; Tetralogy of Fallot; no renal problems; no GIT; no respiratory problems 1 2 Johan den Dunnen
00435414 Fam1Pat2 PubMed: Horn 2021 sister F yes Egypt - - - - - NDD 36w-birth, weight 2,200g; postnatal short stature, height 76 cm (-3.85 SD); failure to thrive, weight 10kg (-2.41 SD); microcephaly OFC 44cm (-2.71 SD); failure-to-thrive; severe developmental delay, 2y7m-no head control/no speech; no seizures; EEG generalized abnormality; bitemporal narrowing, prominent forehead; sparse hair, narrow palpebral fissures, prominent overhanging nasal tip, thin lips, retromicrognathia, low-set simple ears; hypoplastic nails; overlapping fingers, hypoplastic nails; nystagmus; cavum septum pellucidum, thin corpus callosum, cerebellar vermian hypoplasia; congenital heart defects, patent ductus arteriosu, atrial septal defect; hydroureteronephrosis, vesicoureteral reflux 1 1 Johan den Dunnen
00435415 patient PubMed: Vecchio 2022 2-generation family, 1 affected, unaffected heterozygous parents/relatives M no Italy - - - - - NDD 20w- fetal scan showed prefrontal edema, nasal bone hypoplasia, increased nuchal translucency, suspicious of aortic coarctation and ambiguous genitalia, premature rupture of membranes; 34.6w-birth, weight 1980g (−1.12 SD), length 42cm (−1.75 SD), OFC 30.5cm (0.1 SD); height 80 cm (−1.03 SD); Failure to thrive, weight 8,33 (−2.47 SD); microcephaly OFC 46.5cm (−1.76 SD); no failure-to-thrive; severe developmental delay, no walking, no speech, only sitting position acquired; severe developmental dealy/ intellectual disability; no seizures; EEG slow posterior activity and poor representation of the NREM sleep graph-elements; brachyturricephaly; narrow, and slightly downslanted, narrow palpebral fissures, hypoplastic nasal root, bulbous prominent overhanging nasal tip, small mouth with thin lips, arched palate, glossoptosis, retrognathia in Pierre-Robin sequence; sparse hair/eyebrows, toenail hypoplasia/dysplasia; short fingers, broad big toes, marked toenail hypoplasia/dysplasia; mild strabismus; no hearing loss; thin corpus callosum, mild vermian and ventral pons hypoplasia, olfactory bulbs absent.; congenital heart defects, intercoronary partially fused - bicuspid aortic valve, slight ascending aorta's dilation, hypertrabecular left ventricle and a dysmorphic aortic arch with mild acceleration flow; left kidney hypoplasia, right cryptorchidism with ipsilateral hemiscrotum's hypoplasia, penoscrotal transposition, coronal hypospadias; feeding difficulties 1 1 Johan den Dunnen
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