All individuals with variants in gene TTC5

11 entries on 1 page. Showing entries 1 - 11.
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00269109 CW07PatA PubMed: Rasheed 2021 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Turkey Turkish - - - - ? birth 35w (HP:0001622); autistic behaviours (HP:0000729), severe ID (HP:0010864), delayed motor milestones (HP:0002194), lack of speech (HP:0001344); muscular hypotonia (HP:0001252); MRI brain prominent anterior ventricle horns (HP:0002119), dilated paranasal sinus (HP:0000245), distended straight sinus, atrophy corpus callosum (HP:0007371), simplified gyral pattern (HP:0009879), gliosis (HP:0002171); acneiform lesions with dry skin (HP:0000958); minor dysmorphic features abnormal outer ear (HP:0000356), wide forehead (HP:0000337), flared eyebrows (HP:0011229), V-shaped, thin upper lip (HP:0000219) 1 2 Evren Gümüş
00302603 RDHM-05PatA PubMed: Rasheed 2021 4-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Pakistan - - - - - ? birth 37w, BPD 8.8, weight 2.5kg; weight 21kg, present height (cm)cm; 12m-sit, 36m-stand; speech equals 2y3m, 24m-first words; moderate intellectual disability; MRI brain abnormal; cerebral atrophy; no enlarged lateral ventricles; no corpus callosum atrophy; no simplified gyral pattern; no hypotonia; low-set ears, thin upper lip; no microcephaly; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; aggression; undescended testes; no sleep disturbance; no scoliosis/kyphosis; no seizures 1 2 Johan den Dunnen
00302604 Fam5543 PubMed: Rasheed 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - ? birth 39w, HC 32cm, weight 2.75kg; weight 6.8kg, height 110cm; not sitting, not standing; no speech; severe intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; hypotonia; thin upper lip, high arched palate; no microcephaly; normal internipple distance; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; sleep disturbance; no scoliosis/kyphosis; no seizures 1 1 Johan den Dunnen
00302605 5377PatA PubMed: Rasheed 2021 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - ? severe ID (HP:0010864), microcephaly (HP:0011451), hypotonia (HP:0001290), delayed motor milestones (HP:0001270), no speech (HP:0001344), mild kyphosis (HP:0002808), thin upper lip (HP:0000219), curly hair (HP:000212), high arched palate (HP:0002705); 2y-severe epilepsy resulting in roughly four tonic (HP:0010818) and two myoclonic (HP:0002123) seizures per day with cyanosis (HP:0000961) now controlled with antiepileptic medications; severe developmental brain abnormalities including abnormal gyri (HP:0009879), dilated lateral ventricles (HP:0002119), thin corpus callosum (HP:0002079), central atrophy (HP:0002506), cortical atrophy (HP:0002120) 1 1 Johan den Dunnen
00302606 6772PatA PubMed: Rasheed 2021 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - ? birth 40w, now OFC 32cm, weight 3.1kg; weight 21kg, height 82cm; not sitting, not standing; speech two words till now, 54m-first words; moderate intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; hypotonia; long face, brachycephaly, low anterior hair line, fuzzy hair, mild sagging eyelid, prominent nose and nasal tip, v-shaped upper lip, short philtrum, low set protruding ears; microcephaly; wide internipple distance; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures 1 2 Johan den Dunnen
00359547 CW07PatB PubMed: Rasheed 2021 brother M yes Turkey Turkish - - - - ? birth 34w, weight 2.4kg; weight 16.1kg, height 115cm; >1y-sit, >2y-stand; no speech; autistic (HP:0000729), aggressive behavioural pattern (HP:0000718), moderate ID (HP:0002342), delayed motor milestones (HP:0001270), lack of speech (HP:0001344), muscular hypotonia (HP:0001252); severe brain abnormalities, enlarged paranasal (HP:00000245), distended straight sinus, cerebral atrophy (HP:0002059), simplified gyral pattern (HP:0009879), ventriculomegaly third and lateral ventricles (HP:0002119), atrophy corpus callosum (HP:0007371), prominent sylvian fissures (HP:0100952); acneiform lesions with dry skin (HP:0000958); minor dysmorphic features abnormal outer ear (HP:0000356), wide forehead (HP:0000337), flared eyebrows (HP:0011229), V-shaped, thin upper lip (HP:0000219), increased internipple distance (HP:0006610) 1 1 Evren Gümüş
00359548 RDHM-05PatB PubMed: Rasheed 2021 sister F yes Pakistan - - - - - ? birth 34w, BPD 8.5, weight 1.8kg; weight 10kg, height 106.68cm; 12m-stand; no speech; mild intellectual disability; no hypotonia; abnormal outer ear, wide forehead, flared eyebrows and thin upper lip (v-shaped); no microcephaly; hirsutism; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures 1 1 Johan den Dunnen
00359549 6772PatB PubMed: Rasheed 2021 brother M yes Egypt - - - - - ? birth 38w, now OFC 31cm, weight 3kg; weight 10kg, height 120cm; not sitting, not standing; no speech yet; severe intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; enlarged third ventricle; hypotonia; no facial dysmorphism; microcephaly; wide internipple distance; woolly scalp hair; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures 1 1 Johan den Dunnen
00359550 G0317PatIII1 PubMed: Hu 2019, PubMed: Rasheed 2021 - M - - - - - - - ? birth 40w, OFC 48 cm, weight 3.54kg; weight 19kg, height 91cm; not standing; speech less than 10-targeted two-syllable; severe intellectual disability; hypotonia; microcephaly; no autistic behaviour; no seizures 1 3 Johan den Dunnen
00359551 M920001317PatIII2 PubMed: Hu 2019, PubMed: Rasheed 2021 family, 2 affected (F, M) M - - - - - - - ? birth 38w, OFC 47 cm; height 112cm; not sitting, not standing; no speech; severe intellectual disability; leukoencephalopathy; microcephaly; no autistic behaviour; no seizures 1 1 Johan den Dunnen
00359552 M920001317PatIII3 PubMed: Hu 2019, PubMed: Rasheed 2021 - F - - - - - - - ? OFC 43 cm; height 94cm; not sitting, not standing; speech few single syllable words; MRI brain abnormal; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; corpus callosum agenesis, supratentoria larea, mild leukodystrophic pattern; microcephaly; no autistic behaviour; no seizures 1 1 Johan den Dunnen
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