All individuals with variants in gene TMEM147

24 entries on 1 page. Showing entries 1 - 24.
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00431360 Fam1Ind1 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ID birth weight -1.12, length +0.35, OFC -1.23; weight -1.5, height +2.25, OFC +1.5; motor delay (HP:0001270); 2y-walk; intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, hyperactivity, self-injury; synkinesis with mirror movements of the hands (childhood), hypotonia; coarse facies, thick curly hair, hypertelorism, low-set ears, epicanthus large mouth, thick lower lip, sparse eyebrows, broad depressed nasal root; kyphosis, fifth finger bilateral clinodactyly, flat feet, valgus feet transverse palmar crease, 5y6m-pubic hair; MRI brain normal 2 1 Fernanda Soledad Jalil
00431361 Fam2Ind2 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ID weight -0.69, height -0.5; motor delay (HP:0001270); 5y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; aggressivity, frustration intolerance self- injury; no neurological features; coarse facies, thin upper lip, epicanthus synophrys; scoliosis, 5th finger clinodactyly, transverse palmar crease; MRI brain normal 2 1 Fernanda Soledad Jalil
00431362 Fam3Ind3 PubMed: Thomas 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes France - - - - - ID birth weight -6, length -6, OFC -5; motor delay (HP:0001270); not walking; language delay (HP:0000750), babbling; no behavioral problems; general hypotonia; broad depressed nasal root, synophrys, epicanthus, tented mouth; transverse palmar crease; MRI brain normal 1 1 Fernanda Soledad Jalil
00431363 Fam4Ind4 PubMed: Thomas 2022 4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - ID birth weight -0.98, length -1, OFC -1.7; weight -1.7, height +1.3, OFC +2.4; motor delay (HP:0001270); 4y-walk; intellectual disability IQ 50; language delay (HP:0000750), short sentences; repetitive movements, outbursts of anger, hyperactivity; no neurological features; prominent forehead, broad nasal root, flat nasal tip, large tented mouth, long philtrum low set ears; MRI brain thin corpus callosum 1 2 Fernanda Soledad Jalil
00431364 Fam4Ind5 PubMed: Thomas 2022 brother M yes Egypt - - - - - ID birth weight -0.5, length +0.3, OFC +05; weight -2.1, height +1, OFC -1.2; motor delay (HP:0001270); not walking; intellectual disability IQ 45; language delay (HP:0000750), no speech; outbursts of anger, hyperactivity, anxiety; no neurological features; prominent forehead, hypertelorism, down-slanting palpebral fissures, depressed broad nasal root, long philtrum, thin upper lip, everted lower lip, low set ears; MRI brain thin corpus callosum, myelination delay 1 1 Fernanda Soledad Jalil
00431365 Fam5Ind6 PubMed: Thomas 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - ID birth weight -0.5, length -0.08, OFC -1.11; weight -1, height -1, OFC -1.5; motor delay (HP:0001270); 3y-walk; intellectual disability IQ 53; language delay (HP:0000750), single words; outbursts of anger, hyperactivity, hair-eating; no neurological features; coarse facies, elongated face, sparse hair, prominent forehead, depressed nasal root, down- slanting palpebral fissures, long philtrum, tented big mouth, low set ears; MRI brain thin corpus callosum, enlarged lateral ventricles, periventricular white matter T2 hyperintensities 1 1 Fernanda Soledad Jalil
00431366 Fam6Ind7 PubMed: Thomas 2022 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - ID birth weight -4, length -1.8, OFC +0.1; weight -0.8, height -1.5, OFC -2.3; motor delay (HP:0001270); 4y-walk; intellectual disability IQ 48; language delay (HP:0000750), single words; outbursts of anger, hyperactivity; no neurological features; coarse facies, prominent forehead, sparse eyebrows, prominent nasal root, triangular prominent nose, long smooth philtrum, thin upper lip, low set large ears; MRI brain thin corpus callosum, mild prominent verminan folia, 1 4 Fernanda Soledad Jalil
00431367 Fam6Ind8 PubMed: Thomas 2022 brother M yes Egypt - - - - - ID birth weight -4.3, length -1, OFC -0.89; weight -1.7, height -1.8, OFC -1.6; motor delay (HP:0001270); not walking; intellectual disability IQ 35-40; language delay (HP:0000750), no speech; outbursts of anger, anxiety; no neurological features; coarse facies, prominent forehead, down- slanting palpebral fissures, synophrys depressed nasal root, long smooth philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, mild prominent vermian folia 1 1 Fernanda Soledad Jalil
00431368 Fam6Ind9 PubMed: Thomas 2022 cousin F yes Egypt - - - - - ID birth weight -3.2, length -0.88, OFC -1.4; weight -1.2, height -2.3, OFC -1; motor delay (HP:0001270); 5y-walk; intellectual disability IQ 45; language delay (HP:0000750), single words; outbursts of anger; no neurological features; coarse facies, prominent forehead depressed nasal root, broad nasal tip, long smooth philtrum, big mouth, low set ears; MRI brain thin corpus callosum, enlarged lateral ventricles, prominent vermian folia 1 1 Fernanda Soledad Jalil
00431369 Fam6Ind10 PubMed: Thomas 2022 cousin M yes Egypt - - - - - ID birth weight -4, length -1.3, OFC -1.7; weight -1.6, height -1.6, OFC -1.6; motor delay (HP:0001270); not walking; intellectual disability IQ 35; language delay (HP:0000750), no speech; outbursts of anger, anxiety; bilateral severe sensorineural hearing loss; coarse facies, prominent forehead, curly hair, down- slanting palpebral fissures, depressed nasal root, long smooth philtrum, tented mouth, low set ears; patent foramen ovale; MRI brain thin corpus callosum, enlarged lateral ventricles, white matter hyperintensities, prominent cerebellar folia 1 1 Fernanda Soledad Jalil
00431370 Fam7Ind11 PubMed: Thomas 2022 4-generation family, affected brothers (eldest deceased), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - ID birth weight -1.9, length -1.2, OFC -1.5; weight -1.8, height -1, OFC -4.6; motor delay (HP:0001270); not walking; intellectual disability IQ 20-25; language delay (HP:0000750), no speech; outbursts of anger, excessive crying; tonic seizures; prominent forehead, sparse eyebrows, depressed nasal root, broad nose tip, smooth philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, hypoplastic lower vermis 1 2 Fernanda Soledad Jalil
00431371 Fam8Ind12 PubMed: Thomas 2022 6-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents/relatives M yes - - - - - - ID birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, long smooth philtrum, elongated face; elbows arthrogryposis 1 3 Fernanda Soledad Jalil
00431372 Fam8Ind13 PubMed: Thomas 2022 sister F yes - - - - - - ID birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, broad nasal root, smooth philtrum, big mouth, thin upper lip; ichthyosis 1 1 Fernanda Soledad Jalil
00431373 Fam8Ind14 PubMed: Thomas 2022 sister F yes - - - - - - ID birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, broad nasal root, smooth philtrum big mouth; ichthyosis 1 1 Fernanda Soledad Jalil
00431374 Fam9Ind15 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - ID weight -1.2, height 0, OFC -2.5; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; no neurological features; marked epicantus, large ears, tented mouth, short philtrum inverted nasal tip; atrial septal defect, large patent ductus arteriosus; MRI brain normal 1 1 Fernanda Soledad Jalil
00431375 Fam10Ind16 PubMed: Thomas 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes United States - - - - - ID birth weight/length/OFC normal; motor delay (HP:0001270); severe intellectual disability (HP:0001249); language delay (HP:0000750), short sentences; outbursts of anger; no neurological features; coarse facies, hypertelorism, sparse hair, synophyrs, full lips 1 2 Fernanda Soledad Jalil
00431376 Fam10Ind17 PubMed: Thomas 2022 brother M yes United States - - - - - ID birth weight/length/OFC normal; weight -2, height -2; motor delay (HP:0001270); severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, self-injury; general hypotonia 1 1 Fernanda Soledad Jalil
00431377 Fam11Ind18 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France;Spain - - - - - ID motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; anxiety, hyperactivity; no neurological features; long face, exophoria, prognathism, everted lower lip, anteverted floppy ears; kyphoscoliosis, pes planus, long and slender fingers and toes, late puberty; MRI brain posterior white matter hyperintensity 1 1 Fernanda Soledad Jalil
00431378 Fam12Ind19 PubMed: Thomas 2022 2-generation family, affected brother/sister (deceased), unaffected heterozygous carrier parents M yes - - - - - - ID birth weight -1.17, length -0.77, OFC -0.9; weight +1, height -1, OFC +1; motor delay (HP:0001270); 18m-walk; moderate intellectual disability (HP:0001249); language delay (HP:0000750), single words; no behavioral problems; no neurological features; coarse facies, prominent forehead epicanthus, thin upper lip; patent foramen ovale; MRI brain reduced white matter volume 1 2 Fernanda Soledad Jalil
00431379 Fam13Ind20 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - ID birth weight -1, length -0.8, OFC -1.7; weight -3, height -3, OFC -3; motor delay (HP:0001270); not walking; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, aggressivity; no neurological features; coarse facies, synophrys, marked epicanthus, flat nasal tip, long smooth philtrum big tented mouth, elongated face; MRI brain periventricular and occipital white matter T2 hyperintensities, myelination delay 1 1 Fernanda Soledad Jalil
00431380 Fam14Ind21 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - ID birth weight -1.17, length +1.5, OFC -1.8; weight -2, height -1, OFC +1; motor delay (HP:0001270); not walking; intellectual disability (HP:0001249); language delay (HP:0000750), babbling; no behavioral problems; no neurological features; coarse facies, prominent forehead, sparse eyebrows, epicanthus, depressed nasal root, long philtrum tented mouth; MRI brain normal 1 1 Fernanda Soledad Jalil
00431381 Fam15Ind22 PubMed: Thomas 2022 5-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes - - - - - - ID birth weight -1, length -0.5, OFC +0.9; weight -2, height -2, OFC -4.6; motor delay (HP:0001270); not walking; intellectual disability intellectual disability IQ 35; language delay (HP:0000750), no speech; outburst of anger, autistic traits; tonic seizures; prominent forehead, depressed nasal root, broad nose tip, prominent nares, short philtrum, tented mouth, low set ears; MRI brain thin corpus callosum mild frontoparietal cortical atrophy, wide interhemispheric fissure, bilateral mild deep sylvian fissure, periventricular and occipital white matter T2 hyperintensitie 1 2 Fernanda Soledad Jalil
00431382 Fam15Ind23 PubMed: Thomas 2022 brother M yes - - - - - - ID birth weight -1.2, length -0.4, OFC +1; weight -1.7, height +0.2, OFC -2.1; motor delay (HP:0001270); not walking; no behavioral problems; no neurological features; prominent forehead, depressed nasal root, broad nose tip, prominent nares, long philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, mild frontoparietal cortical atrophy, wide interhemispheric fissure, bilateral mild deep sylvian fissure, periventricular white matter T2 hyperintensities 1 1 Fernanda Soledad Jalil
00444515 Pat17 PubMed: Riquin 2023 patient F - France - - - - - NDD Global developmental delay, behavior troubles, clinodactyly, enlarged cerebral ventricles 2 1 Johan den Dunnen
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