Disease #05331 (PCH (hypoplasia, pontocerebellar (PCH)))

Official abbreviation PCH
Name hypoplasia, pontocerebellar (PCH)
OMIM ID -
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 32
Phenotype entries for this disease 32
Associated with 1 gene TBC1D23
Associated tissues cerebellum
Disease features -
Remarks non-degenerative form of pontocerebellar hypoplasia
Date created 2017-09-25 12:19:57 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00131886 FamIPatIV1 PubMed: Marin-Valencia 2017 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Egypt - >16y - - - PCH Born 40w (weight 3 kg, length 50 cm, HC 32.2 cm); last examination 16y (weight 38 kg(-2.65 SD), length 143 cm(-3.56 SD), HC 48 cm(-4.77 SD)) generalized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); dysarthria (HP:0001260); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); gait ataxia (HP:0002066); wide-based gait (HP:0002136); unsteady gait (HP:0002317); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); muscle atrophy (HP:0003202); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321); no dysphagia (-HP:0002015) TBC1D23 TBC1D23 1 2 Thymo van Camerijk
00131887 FamIPatIV5 PubMed: Marin-Valencia 2017 FamIPatIV5 M yes Egypt - >06y - - - PCH Born 38w (weight 2.8 kg, length 48 cm, HC 32 cm); last examination 6y (weight 14 kg(-2.96 SD), length 103 cm(-2.44 SD), HC 44.5 cm(-5.27 SD)) generalized weakness (HP:0003324); delayed gross motor, can only sit (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); minimal dysphagia (HP:0002015); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); wide-based gait (HP:0002136); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321) TBC1D23 TBC1D23 1 1 Thymo van Camerijk
00131888 II-III-1 PubMed: Marin-Valencia 2017 non-identical twins (II-III-1 & II-III-2) F yes Egypt - >04y - - - PCH Born 37w (weight 1.6 kg, length 48 cm, HC 32 cm); last examination 4y (weight 14.5 kg(-0.79 SD), length 103 cm(+0.50 SD), HC 43.5 cm(-3.96 SD)) generalized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); non-ambulatory(HP:0002540); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); hypoplasia of labia minora (HP:0000064) TBC1D23 TBC1D23 1 2 Thymo van Camerijk
00131889 II-III-2 PubMed: Marin-Valencia 2017 non-identical twins (II-III-1 & II-III-2) F yes Egypt - >04y - - - PCH Born 37w (weight 1.5 kg, length 47 cm, HC 31.5 cm); last examination 4y (weight 11.5 kg(-2.62 SD), length 97 cm(-0.89 SD), HC 41.5 cm(-5.25 SD)) generalized weakness (HP:0003324); delayed gross motor, walks supported (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); wide-based gait (HP:0002136); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); muscle atrophy (HP:0003202); hypoplasia of labia minora (HP:0000064) TBC1D23 TBC1D23 1 1 Thymo van Camerijk
00164823 LD_0673.0A PubMed: Vanderver 2016 - F yes Pakistan - - - - - PCH Cognitive milestones: Absent OFC: Microcephaly Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: Hypoplasia Corpus callosum: Abnormal - AMPD2 1 1 Ashley Marsh
00268052 TSEN54.ER PubMed: Sepahvand 2020 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - PCH - TSEN54 TSEN54 1 2 Ehsan Razmara
00275966 CCM220 - - M - Italy - 02y - - - PCH - - EXOSC3 2 1 Enza Maria Valente
00275967 CCM422 - - M - Italy - 00y02m - - - PCH - - EXOSC3 2 1 Enza Maria Valente
00275968 BR2 - - F - - - 09y - - - PCH - - EXOSC3 1 1 Enza Maria Valente
00275969 CCM565 - - F - Spain - 04y - - - PCH - - EXOSC3 1 1 Enza Maria Valente
00275970 CCM248 - - F - Croatia (Hrvatska) - 00y14m - - - PCH - - EXOSC3 1 1 Enza Maria Valente
00275971 CCM216 - - F - Romania - >02y09m - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275972 CCM325 - - M - Italy - >18y09m - - - PCH - - TSEN54 1 1 Enza Maria Valente
00275973 CCM419 - - M - Italy - >01y03m - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275974 CCM430 - - F - (Italy) - >00y09m - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275975 CCM495 - - F - Italy - >04y - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275976 CCM516 - - F - Italy - >00y04m - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275977 CCM517 - - M - Italy - >02y - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275978 CCM276 - - M - Italy - >04y06m - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275979 CCM543 - - M - Italy - >00y04m - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00275980 CCM549 - - F - Italy - >01y - - - PCH - TSEN54 TSEN54 1 1 Enza Maria Valente
00301207 TSEN_54_Iranian - - M yes Iran Fars 02y? - no - PCH HP:0000252, HP:0007334, HP:0002353, HP:0001627, HP:0001272 TSEN54 TSEN54 1 1 Ehsan Razmara
00306854 - - - M yes Egypt - - - - - PCH PCH, microcephaly, diffuse hypotonia, abnormal EEG, ambiguous genitalia - TOE1 1 1 Enza Maria Valente
00408254 Fam1PatII1 PubMed: Coolen 2022 2-generation family, 3 affected, unaffected heterozygous carrier parents F yes Tunisia - 25m - - - PCH deceased 25m; birth 39w; no prenatal growth retardation; cerebellar vermis hypoplasia; profound hypotonia; swallowing defect, desaturation, respiratory distress, bradypnea; weight 7kg (-0.8 SD); height 42cm (-0.9 SD); dysphagia, nasogastric tube feeding; absent motor milestones; severe/profound global developmental delay; axial hypotonia; distal hypertonia; spastic tetraplegia; normal deep tendon reflexes; no seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; abnormal ocular movement, suspicion of papillary edema or hypoplasia; microretrognathia; posterior cleft palate; no cardiac abnormalities; no gastrointestinal abnormalities; oxygen therapy required (nasal canula) - PRDM13 1 3 Johan den Dunnen
00408255 Fam1PatII4 PubMed: Coolen 2022 fetus F yes Tunisia - <0d - - - PCH deceased 24w gestation; birth 24w; no prenatal growth retardation; cerebellar vermis hypoplasia; MRI brain supratentorial normal, no cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no facial dysmorphism; posterior cleft palate; trabecular ventricular septal defect; no gastrointestinal abnormalities; no respiratory system anomalies; mild extremity malpositions - PRDM13 1 1 Johan den Dunnen
00408256 Fam1PatII6 PubMed: Coolen 2022 brother M yes Tunisia - 4m - - - PCH deceased 4m; birth 37w; no prenatal growth retardation; cerebellar vermis hypoplasia; profound hypotonia; swallowing defect, respiratory distress, no cough reflex, bradycardia; dysphagia, nasogastric tube feeding; absent motor milestones; axial hypotonia; distal hypertonia; no seizure; MRI brain supratentorial normal, no cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; bilateral retinal hemorrhages; no facial dysmorphism; no oral cavity findings; ostium secundum atrial septal defect, patent ductus arteriosus; gastroesophageal reflux; oxygen therapy, base of the tongue ptosis, no cough reflex; mild feet malpositions - PRDM13 1 1 Johan den Dunnen
00408257 Fam2PatII1 PubMed: Coolen 2022 2-generation family, 2 affected, unaffected heterozygous carrier parents; fetus F yes Algeria - <0d - - - PCH deceased 31w gestation; no prenatal growth retardation; cerebellar vermis hypoplasia; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no facial dysmorphism; no oral cavity findings; no cardiac abnormalities; no gastrointestinal abnormalities; no respiratory system anomalies - PRDM13 1 2 Johan den Dunnen
00408258 Fam2PatII2 PubMed: Coolen 2022 brother M yes Algeria - 22d - - - PCH deceased 22d; birth 34w; no prenatal growth retardation; cerebellar vermis hypoplasia; respiratory distress, axial hypotonia; swallowing defect, respiratory distress, recurrent apnea, bradycardia; 1d-height 33.5cm (+1.3 SD); dysphagia, nasogastric tube feeding; absent motor milestones; axial hypotonia; distal hypertonia; no seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, no brainstem hypoplasia; no eye tracking; hypertelorism, epicanthic fold; no oral cavity findings; no gastrointestinal abnormalities; apnea, oxygen therapy required in the context of prematurity - PRDM13 1 1 Johan den Dunnen
00408259 Fam3PatII1 PubMed: Coolen 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Pakistan - - - - - PCH birth 39w; prenatal growth retardation; temperature, HR and BP fluctuations; seizures; temperature, HR and BP fluctuations, respiratory distress; 4y6m-weight 12.2kg (<-2 SD); 44y6m height 46.4cn (-2.7 SD); no dysphagia; delayed motor milestones; severe global developmental delay; axial hypotonia; distal hypertonia; no spastic tetraplegia; reduced deep tendon reflexes; neonatal period focal seizures (on levetiracetam); MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; nystagmus with horizontal gaze, short sighted; no facial dysmorphism; no oral cavity findings; sinus rhythm with occasional marked sinus arrhythmia; no gastrointestinal abnormalities; respiratory distress; postural kyphosis - PRDM13 1 2 Johan den Dunnen
00408260 Fam3PatII2 PubMed: Coolen 2022 sister F - Pakistan - - - - - PCH birth 37w; prenatal growth retardation; temperature, HR and BP fluctuations; temperature, HR and BP fluctuations; 7.7m weight 5kg (-3 SD); 33w5d height 38.3cm (-4.7 SD); no dysphagia; delayed motor milestones; mild global developmental delay; axial hypotonia; distal hypertonia; no spastic tetraplegia; normal deep tendon reflexes; one seizure, on levetiracetam since; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, no cerebellar vermis hypoplasia, no brainstem hypoplasia; no ophthalmological findings; no facial dysmorphism; no oral cavity findings; no cardiac abnormalities; no gastrointestinal abnormalities; no respiratory system anomalies; episodic dystonia - PRDM13 1 1 Johan den Dunnen
00408261 Fam4PatII3 PubMed: Coolen 2022 2-generation family, 1 affected, unaffected parents M yes - Arab 16m - - - PCH deceased 16m; birth 40w; no prenatal growth retardation; respiratory distress, recurrent apnea; respiratory distress, recurrent apnea; weight 5.2kg (-4.5 SD); 1d-height 34cm (-1 SD); height 38cm (-7 SD); dysphagia, nasogastric tube feeding; absent motor milestones; severe global developmental delay; axial hypotonia; distal hypertonia; spastic tetraplegia; reduced deep tendon reflexes; neonatal seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no ophthalmological findings; hypertrichosis, low anterior hairline, upslanting palpebral fissures, epicanthic folds; no oral cavity findings; no cardiac abnormalities; recurrent vomiting, gastroesophageal reflux; poor respiratory effort, ventilation dependence - PRDM13 1 1 Johan den Dunnen
00427962 FamPatII6;A058 PubMed: Akesson 2020, PubMed: Bournazos 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Australia Sudan-S - - - - PCH see paper; ..., pregnancy complicated by antenatal detection microcephaly, suspected pontocerebellar hypoplasia; birth 36w, emergency Cesarean section (suspected fetal distress), intubated for poor respiratory effort; microcephaly (OFC Z-2.5), normal growth parameters; abnormal movements with fisting, back-arching, posturing; EEG no seizures; MRI brain microcephaly, cerebellar hypoplasia - ASNS 1 2 Johan den Dunnen
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