All individuals with variants in gene HPDL

43 entries on 1 page. Showing entries 1 - 43.
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00306992 A.II-1 family, 2 affected - M no China chinese 08y - yes - ? Feeding difficulty, Low weight, Strabismus, DD/ID, Hypertonia, Spasm, Encephalopathy, EEG abnormality, Increased urine alpha- ketoglutaric acid, Abnormal MRI 2 2 Wenjuan Qiu
00307009 A.II-2 brother - M no China chinese - - yes - ? Feeding difficulty， Low weight， Strabismus， DD/ID， Hypertonia， Spasm， Encephalopathy， EEG abnormality， Increased serum lactate， Increased urine alpha- ketoglutaric acid， Abnormal MRI 2 1 Wenjuan Qiu
00307029 B.II-2 - - M no China chinese - - yes - ? Low weight， Strabismus， DD/ID， Hypertonia， Spasm， Encephalopathy， EEG abnormality， Increased serum lactate， Increased CSF lactate，Increased urine alpha- ketoglutaric acid， Abnormal MRI 2 1 Wenjuan Qiu
00307030 C.II-1 - - M no China chinese - - yes - ? Low weight， EMG abnormality，DD/ID， Hypertonia， Spasm， Encephalopathy， Increased serum lactate， Abnormal MRI 1 1 Wenjuan Qiu
00307031 D.II-2 family, 2 affected - F no China chinese - - yes - ? EMG abnormality， DD/ID， Hypertonia， Spasm， Increased serum lactate 2 2 Wenjuan Qiu
00307032 D.II-3 brother - M no China chinese - - yes - ? - 2 1 Wenjuan Qiu
00307051 Fam1PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brother/sister, unaffected heterozygous parents M - Algeria - - - - - NDD congenital form; delayed motor development; severe intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−5.3); seizures; spastic paraplegia (tetraparesis); visual disturbance; MRI pattern I suspected; normal nerve conduction 1 2 Johan den Dunnen
00307052 Fam1PatII2 PubMed: Husain 2020, Journal: Husain 2020 sister F - Algeria - - - - - NDD congenital form; delayed motor development; severe intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−5.0); seizures; spastic paraplegia (tetraparesis); visual disturbance; MRI pattern I suspected; normal nerve conduction 1 1 Johan den Dunnen
00307053 Fam2PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M yes Iran - - - - - NDD infantile form; delayed motor development; severe intellectual impairment; chronic progression; regression; no acute respiratory failure; microcephaly (SD−4.6); seizures; spastic paraplegia (tetraparesis); no visual disturbance; normal nerve conduction 1 2 Johan den Dunnen
00307054 Fam2PatII3 PubMed: Husain 2020, Journal: Husain 2020 brother M yes Iran - - - - - NDD infantile form; delayed motor development; severe intellectual impairment; chronic progression; regression; childhood twice no acute respiratory failure; microcephaly (SD−5.3); seizures; spastic paraplegia (tetraparesis); no visual disturbance; MRI pattern I suspected; normal nerve conduction 1 1 Johan den Dunnen
00307055 Fam3PatII3 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes Turkey - - - - - NDD infantile form; delayed motor development; moderate intellectual impairment; chronic progression; regression; 11y-no acute respiratory failure; no microcephaly; seizures; spastic paraplegia; visual disturbance; MRI pattern II; lactate increase; normal nerve conduction; normal muscle histology 1 1 Johan den Dunnen
00307056 Fam4PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes Syria - - - - - NDD infantile form; delayed motor development; mild intellectual impairment; chronic progression; regression; 7y-no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; visual disturbance; MRI pattern II; lactate increase; severely reduced motor nerve conduction velocity, slightly reduced sensory nerve conduction velocity; abnormal variation in muscle fiber diameter 1 1 Johan den Dunnen
00307057 Fam5PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M - Canada - - - - - NDD infantile form; delayed motor development; intellectual impairment; chronic progression; regression; no acute respiratory failure; no microcephaly; seizures; spastic paraplegia; visual disturbance 2 1 Johan den Dunnen
00307058 Fam6PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M - Germany - - - - - NDD infantile form; delayed motor development; mild intellectual impairment; chronic progression; no regression; 3w-no acute respiratory failure; microcephaly (SD−3.3); seizures; spastic paraplegia; visual disturbance; MRI pattern I; reduced sensory nerve conduction velocity unilateral 2 2 Johan den Dunnen
00307059 Fam6PatII3 PubMed: Husain 2020, Journal: Husain 2020 brother M - Germany - - - - - NDD infantile form; delayed motor development; chronic progression; no regression; 6w-no acute respiratory failure; microcephaly (SD−4.2); seizures; spastic paraplegia; visual disturbance; MRI pattern I; lactate increase; reduced sensory nerve conduction velocity; normal muscle histology 2 1 Johan den Dunnen
00307060 Fam7PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous mother, non-carrier father M - Germany - - - - - NDD infantile form; delayed motor development; severe intellectual impairment; no chronic progression; no regression; no acute respiratory failure; microcephaly (SD−2.5); seizures; spastic paraplegia; no visual disturbance; MRI pattern I; abnormal variation in muscle fiber diameter 2 1 Johan den Dunnen
00307061 Fam8PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M - Germany - - - - - NDD infantile form; delayed motor development; mild intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−2.2); no seizures; spastic paraplegia; visual disturbance; MRI pattern I; no lactate increase; abnormal variation in muscle fiber diameter 2 1 Johan den Dunnen
00307062 Fam9PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents F - Germany - - - - - NDD infantile form; delayed motor development; mild intellectual impairment; chronic progression; regression; no acute respiratory failure; microcephaly (SD−2); no seizures; spastic paraplegia; no visual disturbance; MRI pattern III 1 1 Johan den Dunnen
00307063 Fam10PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected parents M - United States - - - - - NDD juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; no visual disturbance 2 1 Johan den Dunnen
00307064 Fam11PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents F yes Turkey - - - - - NDD juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no seizures; spastic paraplegia; no visual disturbance; MRI pattern III; normal nerve conduction 1 1 Johan den Dunnen
00307065 Fam12PatII3 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M yes Syria - - - - - NDD juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; no visual disturbance; MRI pattern III; normal nerve conduction 1 1 Johan den Dunnen
00307066 Fam13PatII1 PubMed: Husain 2020, Journal: Husain 2020 brother M - Turkey - - - - - NDD juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; visual disturbance; normal nerve conduction 1 2 Johan den Dunnen
00307067 Fam13PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected parents M - Turkey - - - - - NDD juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; no visual disturbance 1 1 Johan den Dunnen
00314744 - - - F - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00314745 - - - M - - - - - - - ? Spasticity (HP:0001257); Global developmental delay (HP:0001263); Hepatomegaly (HP:0002240); Abnormality of vision (HP:0000504); Delayed speech and language development (HP:0000750); Intellectual disability, mild (HP:0001256); Obesity (HP:0001513); Urinary incontinence (HP:0000020); Strabismus (HP:0000486); Nystagmus (HP:0000639); Low levels of vitamin D (HP:0100512); Hyperthyroidism (HP:0000836); Vitamin B12 deficiency (HP:0100502) 1 1 IMGAG
00314746 - - - M - - - - - - - ? Increased serum lactate (HP:0002151); Leukoencephalopathy (HP:0002352); Apnea (HP:0002104) 2 1 IMGAG
00314747 - - - M - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00314748 - - - M - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00314749 - - - M - - - - - - - ? Muscular hypotonia (HP:0001252); Poor motor coordination (HP:0002275); Increased serum lactate (HP:0002151); Strabismus (HP:0000486); Abnormality of thalamus morphology (HP:0010663) 2 1 IMGAG
00373536 iw028 - - M no China Chinese - - - - NEDSWMA;CPSQ1 HP:0002353; HP:0002539; HP:0002079; HP:0003155; HP:0012704; HP:0001263; HP:0001250; HP:0001276 2 2 Wenjuan Qiu
00373800 iw031 - - M no China chinese - - - - NEDSWMA;CPSQ1 HP:0002353; HP:0002539; HP:0002079; HP:0003155; HP:0012704; HP:0001263; HP:0001250; HP:0001276 2 2 Wenjuan Qiu
00383056 - - - M no (Latvia) - - - - - NEDSWMA;CPSQ1 - 1 2 Baiba Lace
00394995 - - - M ? Canada - - - - - SPG Stature for age Short stature (<-2SD) Head circumference for age Microcephaly (<-3SD) Progressive microcephaly Proportionate short stature. High palate Retrognathia Epicanthus Micrognathia Metopic synostosis Seizures Dystonia Spasticity Quadrispasticity Irritability Encephalopathy Babinski sign Dysmyelinating leukodystrophy Diffuse white matter abnormalities EEG with persistent abnormal rhythmic activity Severe global developmental delay Elevated brain lactate level by MRS Delayed ability to stand Delayed ability to sit Grasp reflex Abnormal eating behavior 1 1 Baiba Lace
00404665 - - - M yes Egypt - - - - - SPG83 22-y male with progressive weakness and spasticity of both lower limbs, lower limbs' hyperreflexia, sustained clonus, intact abdominal reflex and Babinski sign. He intelligence was borderline/mild mental subnormality (IQ:70). 1 3 Sherifa Ahmed Hamed
00404666 - - - F yes Egypt - - - - - SPG83 16-y female with progressive weakness and spastic paraparesis. she had hypertonia, hyperreflexia and sustained clonus in both lower limbs, intact abdominal reflex and bilateral Babinski sign. She had intact sensation and cognition. 1 2 Sherifa Ahmed Hamed
00438282 273560 - - F no Germany - - - - - NEDSWMA;CPSQ1 Intellectual disability, Heterotropia, Seizure, Secondary microcephaly 2 1 Andreas Laner
00443905 FamA;FamPatV1 PubMed: Morgan 2021, PubMed: Lynex 2004 5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives F yes United Kingdom (Great Britain) Pakistan - - - - ? microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes; plantar response upgoing; bilateral congenital dislocation hips; fixed flexion deformities both knees; never walked independently, 2y6m-mobility with frame; 4y-wheelchair bound after surgery congenital hip dislocation; convergent squint 1 7 Johan den Dunnen
00443906 FamA;FamPatV2 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., full-term normal delivery; severe learning disability; no epilepsy; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; equivocal plantar response; thoracolumbar scoliosis; fixed flexion deformities both knees, extension at hips; distal muscle wasting lower limbs; 2y6m-crawl, became wheelchair dependent 1 1 Johan den Dunnen
00443907 FamA;FamPatV5 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., severe learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; plantar response upgoing; 2y-crawl 1 1 Johan den Dunnen
00443908 FamA;FamPatV7 PubMed: Morgan 2021, PubMed: Lynex 2004 sister F yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., full-term normal delivery; mild/moderate learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; increased lower limb reflexes/tone; plantar response upgoing; 22y-dysarthria, fixed flexion knees; upper and lower limb wasting; became wheelchair dependent; congenital convergent squint; normal nerve conduction studies, EMG normal, creatinine kinase normal 1 1 Johan den Dunnen
00443909 FamA;FamPatV8 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., full-term normal delivery; no severe learning disability; no epilepsy; no microcephaly; severe ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; muscle wasting lower limbs; 2y6m-walk, 22y-partially wheelchair-bound; horizontal ophthalmoplegia, ERG substantially reduced responses on right, absent on left; normal CPK and lactate, amino acids (blood and urine), organic acids, ferritin and caeruloplasmin 1 1 Johan den Dunnen
00443910 FamPatV10 PubMed: Morgan 2021 nephew M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ...,p renatal growth retardation, LSCS for fetal distress; birth weight 5.5 lb; mild learning disability; mid-childhood increased falls; no epilepsy; predominantly lower limbs affected; upper limb ataxia; ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; pes planus; poor muscle bulk; hypotonia changing to hypertonia later; weight gain; 1y6m-walk; facial hypotonia; 11y6m-frequent falling; no eye anomalies; normal nerve conduction studies, EMG normal, creatinine kinase normal 1 1 Johan den Dunnen
00443911 FamPatV11 PubMed: Morgan 2021 niece F yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., normal delivery, birth weight 6.5 lb; mild/moderate learning disability; delayed walking; no epilepsy; 19y-OFC 53.4 cm; predominantly lower limbs affected; mild upper limb ataxia; ataxic gait; plantar response downgoing; short 4th/5th metacarpals (unilateral); mild hyper-telorism, relative small stature; flexed hips; late sitting; 2y6m-first steps, 10y-max mobility, 13y-detoriation; facial hypotonia; esotropia, nystagmus, jerk in horizontal plane and gaze-evoked upbeat in vertical plane, dysarthria, normal jaw jerk and upper limb co-ordination, normal optic discs; 1 1 Johan den Dunnen
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