All individuals with variants in gene MADD

29 entries on 1 page. Showing entries 1 - 29.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00089106 28145425-Fam PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 3 affecteds, father, daugther and son F;M ? France - - - - - ID delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, normal head circumference, minor dysmorphic features incl. epicanthal folds, ptosis, short philtrum, prognathism, fetal pads, protruding ears; intellectual disability (HP:0001249); speech delay (HP:0000750) 1 3 Karine Poirier
00303209 Fam1Pat2 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F no Germany white - - - - ? see paper; ..., severe global developmental delay, severe intellectual disability; moderate muscular hypotonia; grasp, rolling over, sitting unsupported, standing with support, walking few steps with support; no speech; no seizures; EEG abnormal; reduced pain sensation; self-mutilation; crying without tears; ECG-reduced heart rate variability; reduced sweating; no fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; neonatal history hypoglycemia; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; no diarrhea; malabsorption, hyperintense pancreas in ultrasound; contractures of 3rd finger on left and 4th finger on right hand, cutaneous syndactyly of 2nd and 3rd toes, pes calcaneus, scoliosis, reduced bone age; no genital abnormalities; no hearing loss; esotropia; short palpebral fissure, epicanthus, depressed nasal bridge, hypoplastic alae, small mouth, high palate; increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 2 2 Johan den Dunnen
00303210 Fam2Pat3 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes - Arab 00y20m - - - ? see paper; ..., severe global developmental delay; severe muscular hypotonia; no grasp, no rolling over, no sitting; seizures, related to hypoglycemia; EEG normal; no reduced pain sensation; crying without tears; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction low fT4; history hypoglycemia; growth hormone deficiency; (pan)hypopituitarism low FSH, GH; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; enteral bleeding; 2nd overlaps 3rd finger, 5th overlaps 4th toe; small penis, scrotum bipartium, undescended testis; no hearing loss; no eye abnormalities; high forehead, depressed nasal bridge, small mouth; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 1 2 Johan den Dunnen
00303211 17DG0771/Pat6 PubMed: Anazi 2017, Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab 01y03m - - - ? see paper; ..., severe global developmental delay; severe axial muscular hypotonia; no head support, no grasp, roll over functioning; speech delayed, single words; no seizures; EEG normal; ECG-no reduced heart rate variability; fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; no growth hormone deficiency; no (pan)hypopituitarism; low hemoglobin; thrombocytopenia; no exocrine pancreatic insufficiency; obstipation; no diarrhea; G-tube; no skeletal abnormalities; no genital abnormalities; no hearing loss; esotropia; no increased intra-and extra-axial cerebrospinal fluid spaces; delayed myelination; no pituitary anomalies 1 1 Johan den Dunnen
00303212 Pat11 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab, Berbers - - - - ? see paper; ..., severe global developmental delay; pronounced muscular hypotonia; no head control, no sitting without support, spontaneous movement of limbs, limited against gravity; no speech; one episode of electric status seizures; EEG abnormal; reduced pain sensation; no self-mutilation; crying without tears; ECG-no reduced heart rate variability; reduced sweating; fever without focus/temperature dysregulation; no repeated episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; hepatomegaly, distended abdomen; no skeletal abnormalities, osteopenia, harlequin eye, pubic delayed ossification; no genital abnormalities; hearing loss; no eye abnormalities; high and broad forehead, temporal narrowing, depressed nasal bridge, short and broad nose, small mouth; dilated cardiomyopathy; increased intra-and extra-axial cerebrospinal fluid spaces, ega cisterna magna; no delayed myelination; 1 1 Johan den Dunnen
00303213 Fam14Pat18 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no - white - - - - ? see paper; ..., mild developmental delay, mild intellectual disability; no muscular hypotonia; no delayed motor function skills; no speech impairment; absence seizures; EEG abnormal, frontal focus left; no reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; normal hemoglobin, no thrombocytopenia; no exocrine pancreatic insufficiency, no obstipation, no diarrhea; scoliosis; no hearing loss; no eye abnormalities; arcuate eyebrows; no behavior abnormalities; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; no genital abnormalities 2 2 Johan den Dunnen
00303214 Pat5 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white;native American 01y04m - - - ? see paper; ..., severe global developmental delay; severe muscular hypotonia; no sitting unsupported; no speech; febrile seizures; EEG abnormal; no self-mutilation; no crying without tears; ECG-no reduced heart rate variability; no reduced sweating; intermittentt fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; growth hormone deficiency; no (pan)hypopituitarism; low hemoglobin; thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; hepatomegaly, liver biopsy with iron overload in hepatocytes and cholestasis; 2nd overlaps 1st toe, rotational subluxation C1- C2; no genital abnormalities; hearing loss; esotropia; widely spaced nipples, hirsutism; increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 2 1 Johan den Dunnen
00303215 Pat10 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - ? see paper; ..., severe global developmental delay, intellectual disability; severe muscular hypotonia; head support, no grasp, no sitting unsupported; no speech; no seizures; EEG normal; reduced pain sensation; no self-mutilation; no crying without tears; ECG-no reduced heart rate variability; reduced sweating; fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; low hemoglobin; thrombocytopenia; exocrine pancreatic insufficiency; obstipation; diarrhea; gastroesophageal reflux; hypermobility of joints; no genital abnormalities; no hearing loss; strabismus; broad forehead, broad nasal bridge, small nose, hypoplastic alae, small philtrum, small mouth; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 2 1 Johan den Dunnen
00303216 Pat7 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - South America 00y08m - - - ? see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; some head support, some grasp, no sitting unsupported; no seizures; EEG abnormal; no reduced pain sensation; self-mutilation; no crying without tears; ECG-no reduced heart rate variability; no reduced sweating; fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction low fT3, TSH; neonatal history hypoglycemia; neonatal history hypoglycemia; (pan)hypopituitarism low FSH, TSH, prolactin; low hemoglobin; thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; malabsorption, total parenteral nutrition, G-tube; clenched hands with overlapping fingers; small penis, undescended testes; no hearing loss; no eye abnormalities; low-set ears, high-arched palate, low posterior hairline; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; pituitary hypoplasia 1 1 Johan den Dunnen
00303217 Pat8 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white 00y22m - - - ? see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; some head support, no grasp, no rolling over, no sitting; no speech; febrile seizures; EEG normal; reduced pain sensation; self-mutilation; no crying without tears; ECG-no reduced heart rate variability; reduced sweating; constant fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; no thyroid dysfunction low fT4; neonatal history hypoglycemia; neonatal history hypoglycemia; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; diarrhea; inflated stomach, hepatosplenomegaly, dense pancreatic structure in ultrasound; flexion contractures on elbows and knees, adducted thumbs, gracile ribs, extra pair of rudimentary ribs below the 12th; no genital abnormalities; hearing loss; myopia; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 1 1 Johan den Dunnen
00303218 Pat15 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - white - - - - ? see paper; ..., severe global developmental delay, intellectual disability; severe axial muscular hypotonia; sits, no standing, no walking; no speech; no seizures; EEG normal; no reduced pain sensation, no self-mutilation, crying without tears, ECG-no reduced heart rate variability; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; normal hemoglobin, no thrombocytopenia; no obstipation, no diarrhea; kyphosis; no hearing loss; no eye abnormalities; high forehead, broad and depressed nasal bridge; no increased intra- and extra-axial cerebrospinal fluid spaces, delayed myelination, no pituitary anomalies; small penis 1 1 Johan den Dunnen
00303219 Fam11Pat13 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India;Pakistan - 02y06m - - - ? see paper; ..., severe global developmental delay; severe muscular hypotonia; minimal milestones achieved; no speech; seizures; EEG abnormal; reduced pain sensation; self-mutilation; no crying without tears; ECG-reduced heart rate variability; no reduced sweating; fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; history hypoglycemia; no (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; dysphagia, aspiration, gastroesophageal reflux, total parenteral nutrition; left clubfoot, right vertical talus, severe arthrogryposis, congenital hip dysplasia, hemivertebra or cleft vertebra at C6-C7 with widening of the interpedicular distance in the lower cervical spine; no genital abnormalities; no hearing loss; no eye abnormalities; bitemporal narrowing, downslanting palpebral fissures, prominent nasal tip, high narrow palate, hypoplastic alae, small mouth, micrognathia, retrognathia, short neck, ears borderline low- set and posteriorly rotated, right ear overfolded with “satyr” appearance; cardiomegaly, left aortic arch, pulmonary hypertension, frequent infections, tracheostomy with ventilation, respiratory failure; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 2 2 Johan den Dunnen
00303220 Fam16Pat21 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes - Persian - - - - ? see paper; ..., perinatal hypotonia; severe global developmental delay; mild muscular hypotonia; 2y6m-sit, 3y6m-walk, 6y-running, dystonic gait; speech impairment, few words; tonic and generalized seizures; EEG abnormal, bilateral sharp waves; no reduced pain sensation, self-mutilation, no crying without tears; no reduced sweating, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction; normal hemoglobin; no hearing loss; no eye abnormalities; dolicocephaly, dental crowding; stereotypic movements; no genital abnormalities 1 2 Johan den Dunnen
00303221 Pat23 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white - - - - ? see paper; ..., moderate global developmental delay, moderate intellectual disability; mild muscular hypotonia; rolling over, sitting unsupported, stand with support; speech impairment, short sentences, dysarthria; no seizures; reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; low hemoglobin, no thrombocytopenia; no exocrine pancreatic insufficiency, obstipation, diarrhea; no hearing loss; no eye abnormalities; short palpebral fissures, broad nasal bridge, anteverted nares, low-set columella, full lips, pointed chin, broad ear helix; autism spectrum disorder, attention deficit hyperactivity disorder; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; small penis, unilateral undescended testis, phimosis 2 1 Johan den Dunnen
00303222 Pat9 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - ? see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; very reduced spontaneous movements, rolling over; speech delayed, single words; febrile seizures; EEG abnormal; reduced pain sensation; no self-mutilation; crying without tears; ECG-no reduced heart rate variability; reduced sweating; fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; central thyroid dysfunction; no history hypoglycemia; growth hormone deficiency; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; diarrhea; hepatomegaly; no skeletal abnormalities; no genital abnormalities; no hearing loss; hyperopia; high forehead, depressed nasal bridge, short nose, small mouth; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; pituitary hypoplasia 1 1 Johan den Dunnen
00303223 Fam16Pat22 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M yes - Persian - - - - ? see paper; ..., moderate developmental delay; no muscular hypotonia; 1y-sitt, 2y6m-walk, dystonic gait; speech impairment, few words; one episode of seizures with cyanosis; no reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction; normal hemoglobin, no thrombocytopenia; no hearing loss; no eye abnormalities; dolicocephaly; no genital abnormalities 1 1 Johan den Dunnen
00303224 Pat20 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Fars 03y - - - ? see paper; ..., apnea at birth; severe global developmental delay; moderate muscular hypotonia; sitt with support, no walking, mild regression; no speech; focal and generalized seizures; EEG abnormal; no reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no fever without focus/temperature dysregulation, neonatal repeated episodes of apnea and/or desaturations; no history of hypoglycemia; normal hemoglobin, no thrombocytopenia; obstipation, no diarrhea, hepatomegaly, hepatic biopsy showed glycogen storage disorder; dorsal flexion of feet; no hearing loss; no eye abnormalities; high forehead, long eyelashes, small nose, hypoplastic alae, small mouth; increased intra- and extra-axial cerebrospinal fluid spaces, delayed myelination, no pituitary anomalies 1 1 Johan den Dunnen
00303225 Fam14Pat19 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no - white - - - - ? see paper; ..., Caesarian section because of flat CTG and non-progressing labour; mild global developmental delay, mild intellectual disability; no muscular hypotonia; 1y9m-walk without support; mild speech impairment; absence seizures; EEG abnormal, frontal focus left; no reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; low hemoglobin, thrombocytopenia; no exocrine pancreatic insufficiency, no obstipation, no diarrhea; increased femoral anteversion; no hearing loss; no eye abnormalities; long, narrow face, arcuate eyebrows, high palate, narrow upper tooth arch with dental crowding; attention deficit hyperactivity disorder; no genital abnormalities 2 1 Johan den Dunnen
00303226 Fam13Pat16 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - white - - - - ? see paper; ..., perinatal respiratory distress, hypotonia, bradycardia; severe global developmental delay, moderate intellectual disability; severe generalized muscular hypotonia; 2y-walk with support, 3y2m-walk without support; speech impairment; seizures; EEG abnormal; reduced pain sensation, no self-mutilation, no crying without tears, ECG-no reduced heart rate variability; no reduced sweating, no fever without focus/temperature dysregulation, nonataal/childhood repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; normal hemoglobin, no thrombocytopenia; no exocrine pancreatic insufficiency, obstipation, no diarrhea; no skeletal features; no hearing loss; exotropia; bossing forehead, plagiocephaly; no behavior abnormalities; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; undescended testis 2 2 Johan den Dunnen
00303227 Fam11Pat14 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no India;Pakistan - - - - - ? see paper; ..., severe global developmental delay; mild muscular hypotonia; grasp, rolling over, sitting unsupported, standing with support; no speech; no seizures; reduced pain sensation; self-mutilation; no crying without tears; no reduced sweating; no fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; thyroid dysfunction; history hypoglycemia; growth hormone deficiency; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; dysphagia, gastroesophageal reflux, G-tube; clinodactyly, mild arthrogryposis (contractures at the wrists, elbows, hips and knees), partial hip dysplasia; micropenis with fused and flat scrotum, undescended testes; no hearing loss; strabismus; bitemporal narrowing with enophthalmos, hypoplastic alae, short philtrum, small mouth, high narrow palate, mild retrognathia, micrognathia, short neck; autism; minimal cerebrospinal fluid prominence within posterior fossa versus small arachnoid cyst; no delayed myelination; no pituitary anomalies 2 1 Johan den Dunnen
00303228 Pat12 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - ? see paper; ..., severe global developmental delay; severe muscular hypotonia; smiles in response, listens to voice, turns head, raises head slightly, watches person, reaches toward objects, no grasp, no sitting, no rolling over; no speech; seizures; EEG abnormal; reduced pain sensation; no crying without tears; ECG-no reduced heart rate variability; no reduced sweating; constant fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations, still presen, oxygen dependent; no thyroid dysfunction; neonatal history hypoglycemia; no (pan)hypopituitarism; no low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; no diarrhea; stool bulky, copious and more frequent during the day (2-3 times), sometimes even watery; elbow and knee joint contractures, long fingers since birth; no genital abnormalities; no hearing loss; no eye abnormalities; micrognathia, broad nasal bridge, long philtrum, high palate, small mouth, low-set ears; congenital hypertrichosis; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 2 1 Johan den Dunnen
00307906 Fam2Pat4 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 sister F yes - Arab - - - - ? see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; no grasp, no rolling over, no sitting; seizures, related to hypoglycemia; EEG abnormal; no reduced pain sensation; no self-mutilation; intermittentt fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; no thyroid dysfunction low fT3, fT4; neonatal history hypoglycemia; no growth hormone deficiency; (pan)hypopituitarism low FSH, TSH; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; exudative enteropathy necessitating partial parenteral nutrition; no skeletal abnormalities; no genital abnormalities; hearing loss; no eye abnormalities; high forehead, depressed nasal bridge, small mouth; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 1 1 Johan den Dunnen
00307907 Fam1Pat1 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no Germany white 07y05m - - - ? see paper; ..., severe global developmental delay, severe intellectual disability; pronounced muscular hypotonia; grasp, rolling over, no sitting, standing with support, no walking; no speech; focal and generalizing seizures; EEG abnormal; reduced pain sensation; self-mutilation; crying without tears; ECG-reduced heart rate variability; reduced sweating; constant fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; neonatal growth hormone deficiency; (pan)hypopituitarism; low hemoglobin; thrombocytopenia; exocrine pancreatic insufficiency; obstipation; no diarrhea; markedly inflated stomach; cutaneous syndactyly of 2nd and 3rd toes, reduced bone age, furcate rib right; small penis, undescended testes; no hearing loss; esotropia; short palpebral fissure, depressed nasal bridge, hypoplastic alae, small mouth, high palate; increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies 2 1 Johan den Dunnen
00307916 Fam13Pat17 PubMed: Schneeberger 2020 brother M no - - - - - - ? see paper; ..., perinatal respiratory distress, hypotonia; severe global developmental delay; moderate muscular hypotonia; no seizures; EEG abnormal; ECG-reduced heart rate variability; no fever without focus/temperature dysregulation, neonatal repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia; low hemoglobin, no thrombocytopenia; no obstipation, no diarrhea; no skeletal features; no hearing loss; no eye abnormalities; broad forehead, micrognathia,, prominent ear helix; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; undescended testis 2 1 Johan den Dunnen
00307921 17DG0770 PubMed: Anazi 2017 - F - - - - - - - ID see paper; ..., expressive language delay; autism; poor eye contact 2 1 Johan den Dunnen
00372036 CMD1 PubMed: Singer 2021 - - - Australia - - - - - CMH - 1 1 Johan den Dunnen
00379552 180385 - - M likely Iraq - - - - - DD Seizure, Global developmental delay, Abnormal foot morphology, Pes planus, Generalized-onset seizure, Scoliosis, Thoracic kyphosis, Abnormality of the curvature of the vertebral column, Abnormal nervous system physiology, Neurodevelopmental delay, Skewfoot; brother died at the age of 3 years with similar developmental disorder 1 1 Andreas Laner
00387717 M135 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - ID non-syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00387718 M135 PubMed: Hu 2019 family, 1 affected individual - - - - - - - - ID non-syndromic intellectual disability, no microcephaly 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.