All individuals with variants in gene TECPR2

38 entries on 1 page. Showing entries 1 - 38.
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00180495 - PubMed: Koeleman 2014 Spanish cohort F;M - Spain Spanish - - for details see the Uveogene database - uveitis - 1 9 Peizeng Yang
00180496 - PubMed: Koeleman 2014 Dutch cohort F;M - Netherlands Dutch - - for details see the Uveogene database - uveitis - 1 14 Peizeng Yang
00290965 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00290966 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 184 Mohammed Faruq
00290967 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 37 Mohammed Faruq
00290968 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 92 Mohammed Faruq
00290969 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 2 1 Johan den Dunnen
00304417 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00304418 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00307976 09DG00835;Pat13 PubMed: Anazi 2017, PubMed: Neuser 2021 simplex case F - Saudi Arabia - - - - - ID see paper; ..., no premature birth (-HP:0001622); no short stature (-HP:0004322); decreased body weight (HP:0004325); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),hypotelorism; no brachycephaly (-HP:0000248); tapered fingers (HP:0001155); no abnormality of the foot (-HP:0001760); no abnormality of skeletal morphology (-HP:0011842); not yet walking; no words; global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000708), self-mutilation; seizures (HP:0001250), twice a day; no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), lack of tearing, very high pain threshold; no temperature instability (-HP:0005968); normal systemic blood pressure (-HP:0030972); no hyperhidrosis (-HP:0000975); no peripheral neuropathy (-HP:0009830); impaired pain sensation (HP:0007328); skin ulcer (HP:0200042); no hearing impairment (-HP:0000365); opisthotonus; normal palate morphology (-HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205), bronchial asthma; no aspiration (-HP:0002835); no central hypoventilation (-HP:0007110); no nocturnal hypoventilation (-HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), hypoplasia; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); G-tube dependency 1 1 Johan den Dunnen
00314847 FamAPatII1;Pat18 PubMed: Oz-Levi 2012, PubMed: Neuser 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Israel Jewish-Bukharian - - - - ? see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); skin ulcer (HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); progressive aplasia/hypoplasia cerebellar vermis (HP:0006817); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen 1 1 Johan den Dunnen
00314848 FamBPatII2;Pat20 PubMed: Oz-Levi 2012, PubMed: Neuser 2021 2-generation family, affected brother (deceased)/sister, unaffected heterozygous carrier parents F - Israel jew-Bukharian - - - - ? see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); seizures (HP:0001250), short generalized tonic-clonic seizures; hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); transient severe encephalopathy with intermittent elevation of transaminases; normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen; non-invasive ventilation; intermittent elevation of transaminases (HP:0001939) 1 2 Johan den Dunnen
00314849 FamCPatII1;Pat21 PubMed: Oz-Levi 2012 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Israel Jewish-Bukharian - - - - INFM see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen; 1 2 Johan den Dunnen
00314850 FamCPatII2;Pat22 PubMed: Oz-Levi 2012, PubMed: Neuser 2021 younger brother M - Israel Jewish-Bukharian - - - - INFM see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), thinning; cerebral atrophy (HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen 1 1 Johan den Dunnen
00314851 Fam1;Pat24 PubMed: Heimer 2016, PubMed: Neuser 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Israel Jewish-Ashkenazi - - - - INFM see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no short stature (-HP:0004322); abnormal facial shape (HP:0001999),mild coarse face, short neck, retrocollis; no brachycephaly (-HP:0000248); pectus carinatum; 3y-walk; 4y-first words; 2-3 word sentences at age 4y; global developmental delay (HP:0001263); oderate intellectual disability (HP:0002342); behavioral abnormalities (HP:0000708), hyperactivity, impulsivity; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), fainting/awake apnea, recurrent sudden loss of consciousness; no temperature instability (-HP:0005968); normal systemic blood pressure (-HP:0030972); no hyperhidrosis (-HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); no skin ulcer (-HP:0200042); hearing impairment (HP:0000365), mild bilateral neurosensory hearing defect; visual impairment (HP:0000505), astigmatism, myopia; arched palate (HP:0000174); bilateral lung disease, unilateral emphysema, bronchiectasis (HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); average of 12 apneic episodes per hour during sleep with peak O2 desaturation of 80% and pCO2 of 55 mmHg; neurogenic, sensory-motor swallowing defect; G-tube dependency; normal metabolism/homeostasis (-HP:0001939); 2 1 Johan den Dunnen
00314852 Fam2;Pat25 PubMed: Heimer 2016, PubMed: Neuser 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel jew-Ashkenazi - - - - INFM see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no congenital microcephaly (-HP:0011451); short stature (HP:0004322); no decreased body weight (-HP:0004325); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),"mild facial dysmorphism", retrocollis; no brachycephaly (-HP:0000248); small feet; scoliosis; 4y-walk; 10 partial words at age 7y; global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000708), restlessness, mood swings; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), autonomic neuropathy (tested by SSR test), episodes of unexplained fever or hypothermia, bradycardia or hypertension, cold extremities, hyper or hyponatremic dehydration and sweating with pallor; temperature instability (HP:0005968); abnormal systemic blood pressure (HP:0030972); hyperhidrosis (HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); skin ulcer (HP:0200042); hearing impairment (HP:0000365), decreased hearing; visual impairment (HP:0000505), esotropia; encephalopathy events; high arched palate (HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG abnormal (HP:0002353), encephalopathy pattern; normal corpus callosum morphology (-HP:0001273); mild cerebral atrophy (HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); recurrent arousals, apneas and retained pCO2 up to values of >100 mmHg while not ventilated; G-tube dependency; non-invasive ventilation; normal metabolism/homeostasis (-HP:0001939) 1 1 Johan den Dunnen
00314853 Fam3;Pat26 PubMed: Heimer 2016, PubMed: Neuser 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel;Tunisia Je-Ashkenazi;Tunisia;Yamani-Kurdish - - - - INFM see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); short stature (HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); abnormal facial shape (HP:0001999),mild coarse face, low hairline, short neck, retrocollis; no brachycephaly (-HP:0000248); not yet walking; global developmental delay (HP:0001263); intellectual disability (HP:0001249); behavioral abnormalities (HP:0000708), restlessness, hyperactivity, apathy; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); abnormality autonomic nervous system (HP:0002270), autonomic neuropathy (tested by SSR test), episodes of hyper or hyponatremic dehydration, cold extremities, postural hypotension, unexplained fevers with elevated blood pressure; temperature instability (HP:0005968); abnormal systemic blood pressure (HP:0030972); hyperhidrosis (HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); no visual impairment (-HP:0000505); normal palate morphology (-HP:0000174); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); abnormal corpus callosum morphology (HP:0001273), thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); mild ventriculomegaly; G-tube dependency; normal metabolism/homeostasis (-HP:0001939); 2 1 Johan den Dunnen
00314854 patient;Pat27 PubMed: Covone 2016, PubMed: Neuser 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - ? see paper; ..., normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); normal age walking; normal speech; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); no behavioral abnormalities (-HP:0000708); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); generalized hyperreflexia (HP:0007034); muscular hypotonia (HP:0001252) trunk, upper limbs; muscular hypertonia (HP:0001276) lower limbs; dysarthria (HP:0001260); peripheral neuropathy (HP:0009830); visual impairment (HP:0000505), strabismus, oculomotor apraxia; muscle atrophy, EMG: severe neurogenic pattern, joint retraction, ankle clonus, tongue fasciculations, spastic gait; no recurrent respiratory infections (-HP:0002205); abnormal corpus callosum morphology (HP:0001273), mild thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-invasive ventilation; 2 1 Johan den Dunnen
00314855 patient;Pat28 PubMed: Patwari 2020, PubMed: Neuser 2021 - F - United States - - - - - ? see paper; ..., no premature birth (-HP:0001622); no short stature (-HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); 22m-walk; 50 words at age 3.5y; global developmental delay (HP:0001263); intellectual disability (HP:0001249); behavioral abnormalities (HP:0000708), excessively friendly, hyperactive; no seizures (-HP:0001250); no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066), poorly coordinated gait; dysarthria (HP:0001260), articulation difficulties; abnormality autonomic nervous system (HP:0002270), photophobia (without an overt pupil abnormality) and chronic constipation; impaired pain sensation (HP:0007328); visual impairment (HP:0000505), strabismus; normal respiratory system morphology (-HP:0012252); no recurrent respiratory infections (-HP:0002205); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); no gastroesophageal reflux at infancy (-HP:0002020); no vomiting (-HP:0002013); dysphagia (HP:0002015); chronic constipation (HP:0012450); EEG abnormal (HP:0002353), mild background slowing and excess fast activity diffusely, rare bursts of delta activity and multifocal epileptiform discharges without clinical correlate; normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-specific gliosis with suspicion for myoneural disorder; complex respiratory pattern consisting of expiratory hypopneas, central appearing apneas, and questionable apneustic breathing; non-invasive ventilation; normal response to medications/anesthesia 2 1 Johan den Dunnen
00314856 Pat19;Pat23 PubMed: Zhu 2015, PubMed: Neuser 2021 - M no United States Middle East - - - - ? see paper; ..., global developmental delay (HP:0001263); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); abnormality autonomic nervous system (HP:0002270), "autonomic dysfunction with encephalopathic events"; normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); gastroesophageal reflux at infancy (HP:0002020) 1 1 Johan den Dunnen
00448180 Pat17;Pat18 PubMed: Neuser 2021, PubMed: Poli 2024 - F yes Chile Peru;Hispanic - - - - ? see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no congenital microcephaly (-HP:0011451); no short stature (-HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); abnormal facial shape (HP:0001999),sloping forehead, thick eyebrows, upslanting palpebral fissures, prominent nose with bulbous tip, retrognathia; no brachycephaly (-HP:0000248); no abnormality hand (-HP:0001155); no abnormality of the foot (-HP:0001760); no abnormality of skeletal morphology (-HP:0011842); 1y8m-walk; 1y6m-first words; mildly impaired ; global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); behavioral abnormalities (HP:0000708), aggressive, psychosis; no seizures (-HP:0001250); no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252) during infancy; no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), sweating; temperature instability (HP:0005968); normal systemic blood pressure (-HP:0030972); hyperhidrosis (HP:0000975); no impaired pain sensation (-HP:0007328); no skin ulcer (-HP:0200042); no hearing impairment (-HP:0000365); no visual impairment (-HP:0000505); normal palate morphology (-HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); no central hypoventilation (-HP:0007110); no gastroesophageal reflux at infancy (-HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); no G-tube dependency; no non-invasive ventilation; normal metabolism/homeostasis (-HP:0001939); normal response to medications/anesthesia; juvenile idiopathic arthritis, uveitis 1 1 Johan den Dunnen
00448226 FamBPat;Pat19 PubMed: Oz-Levi 2012, PubMed: Neuser 2021 - M - Israel jew-Bukharian - - - - ? see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); seizures (HP:0001250), short generalized tonic-clonic seizures; hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen; 1 1 Johan den Dunnen
00448227 Pat1 PubMed: Neuser 2021 - M yes Germany Turkey - - - - ID developmental delay; severe failure to thrive; aortic root dilation; micropenis; dysmorphic facial features 1 1 Johan den Dunnen
00448228 Pat2 PubMed: Neuser 2021 - F no United States Europe-E;jew-Ashkenazi - - - - ID developmental delay; speech delay; labia anomalies; limb anomalies; dysmorphic facial features; mother (unavailable) with similar phenotype 1 1 Johan den Dunnen
00448229 Pat3 PubMed: Neuser 2021 - F no Germany - - - - - ID intellectual disability; autism spectrum disorder; microcephaly; strabismus; gastroesophageal reflux; limb anomalies 2 1 Johan den Dunnen
00448230 Pat4 PubMed: Neuser 2021 - M no United States jew-Ashkenazi - - - - ID intellectual disability; immune system dysfunction juvenile idiopathic arthritis; behavioral abnormality; dysmorphic facial features; parental consanguinity; deceased sibling 1 1 Johan den Dunnen
00448231 Pat5 PubMed: Neuser 2021 - M no United States jew-Ashkenazi - - - - ID intellectual disability; microcephaly; microphthalmia; short stature; dysmorphic facial features; sibling with similar phenotype, deceased at 1 week of age 1 1 Johan den Dunnen
00448232 Pat6 PubMed: Neuser 2021 - M yes United Arab Emirates - - - - - ID developmental delay; macrocephaly; seizure; hypotonia; dysmorphic facial features; mother had 2 miscarriages/stillborn with anencephaly 1 1 Johan den Dunnen
00448233 Pat7 PubMed: Neuser 2021 family, 2 affected brothers M yes Saudi Arabia - - - - - ID intellectual disability; microcephaly; minor facial anomalies; scoliosis; renal tubular acidosis; poikiloderma 1 2 Johan den Dunnen
00448234 Pat8 PubMed: Neuser 2021 brother M yes Saudi Arabia - - - - - ID cerebellar vermis hypoplasia; perimembranous ventricular septal defect; oro-pharyngeal dysphagia 1 1 Johan den Dunnen
00448235 Pat9 PubMed: Neuser 2021 - M no - jew-Ashkenazi - - - - ID polyhydramnios; decreased fetal movement; seizures. deceased. two affected siblings, deceased. 1 1 Johan den Dunnen
00448236 Pat10 PubMed: Neuser 2021 - M no - jew-Ashkenazi;Turkey - - - - ID polycystic kidney dysplasia; recurrent infections; immune system dysfunction (sepsis) 2 1 Johan den Dunnen
00448237 Pat11 PubMed: Neuser 2021 - M no - jew-Bukharian - - - - ID developmental delay; microcephaly; severe short stature; strabismus; cryptorchidism; clinodactyly of the 5th finger; dysmorphic facial features 1 1 Johan den Dunnen
00448238 Pat12 PubMed: Neuser 2021 - M no - jew-Bukharian - - - - ID intellectual disability; borderline; autism spectrum disorder; macrocephaly; cranial hyperostosis; myopia; astigmatism; obesity 1 1 Johan den Dunnen
00448239 Pat13 PubMed: Neuser 2021 - M yes United Kingdom (Great Britain) Pakistan - - - - ID intellectual disability; seizures; microcephaly; short stature; ventricular septal defects; micropenis; dysmorphic facial features 1 1 Johan den Dunnen
00448240 Pat14 PubMed: Neuser 2021 family, affected brother/sister M yes United Kingdom (Great Britain) Pakistan - - - - ID intellectual disability-profound; conductive hearing impairment; short stature; dysmorphic facial features 1 2 Johan den Dunnen
00448241 Pat15 PubMed: Neuser 2021 sister F yes United Kingdom (Great Britain) Asia;Pakistan - - - - ID motor delay; hearing impairment; strabismus; laryngomalacia; umbilical hernia; skeletal anomalies; dysmorphic facial features 1 1 Johan den Dunnen
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