Phenotypes for disease #05461 (CDG (glycosylation, congenital disorder of (CDG)))

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0000132918 congenital disorders of glycosylation SPDRS includes syndromes previously referred to as SPDRS (salt & pepper develpmental regression syndrome) and Amish type Epilepsy. HP:0002133, HP:0000252, HP:0100704, HP:0001034, HP:0008972, HP:0002151 Familial, autosomal recessive 00y04m? 10y 00y04m? HP:0001508, HP:0001252, HP:0000365, HP:0000737 - Marco Trinchera 00168052
0000223234 - NGLY1-congenital disorder of deglycosylation Delayed psychomotor development. Uncoordinated, wide-based gait. Sialorrhea, constipation, and severe hypolacrimation with blepharitis MRI of the brain showed mild cerebral atrophy, and corpus callosum hypoplasia. Acute liver failure. Familial, autosomal recessive 05y 05y 00y00m - - Aida Bertoli-Avella 00295674
0000230005 intellectual disability MRX106 see paper; ... Isolated (sporadic) 07y08m - - - - Sander Pajusalu 00230994
0000272165 congenital glycosylation disorder - birth-36w, weight 2050g, length 44cm, OFC 33cm; length 152cm (-1.6SD), OFC 54cm (+0.5SD), weight 64kg (+0.5SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; strabismus, astigmatism; no ear abnormalities; normal extremities; no genital abnormalities; diabetes Familial, autosomal recessive 28y - - - - LOVD 00376972
0000272166 congenital glycosylation disorder - birth full term, weight 3050g, length 45cm, OFC 34cm; length 154cm (-1.2SD), OFC 54cm (-0.5SD), weight 67kg (+0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities Familial, autosomal recessive 22y - - - - LOVD 00376973
0000272167 congenital glycosylation disorder - birth full term, weight 3150g, length 50cm, OFC 34cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 48.5kg (-0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; ears thickened helix; normal extremities; no genital abnormalities Familial, autosomal recessive 16y - - - - LOVD 00376974
0000272168 congenital glycosylation disorder - birth full term, weight 3095g, length 50cm, OFC 35cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 43.7kg (-2.0SD); moderate intellectual disability; developmental delay; speech delay; no seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis, no cerebellar vermis hypoplasia, wide cisterna magna; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; ptosis (right eye more affected); astigmatism; ears low set, mild protrusion; normal extremities; no genital abnormalities Familial, autosomal recessive 19y - - - - LOVD 00376975
0000272169 congenital glycosylation disorder - birth full term, weight 3140g, length 48.5cm, OFC 34.5cm; length 106cm (-2.0SD), OFC 50cm (-0.5SD), weight 16.3kg (-1.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; hyperactivity; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; refractive error; ears low set, mild protrusion; positional club feet; no genital abnormalities; gastro-esophageal reflux Familial, autosomal recessive 6y - - - - LOVD 00376976
0000272170 congenital glycosylation disorder - birth full term, weight 3288g, length 53,3cm; length 128.3cm (-1.0SD), OFC 52cm (-0.6SD), weight 23kg (-1.6SD); no intellectual disability; developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; attention difficulties requiring medical therapy; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; hydrocele; normal carboyhdrate deficient transferrin, mild liver function tests elevation, low am cortisol, hypoalbuminemia; thin skin with visible veins, hirsuite legs, delayed bone age, chronic constipation Familial, autosomal recessive 11y - - - - LOVD 00376977
0000272171 congenital glycosylation disorder - birth full term, weight 3714g; length 119cm (-1.0SD), OFC 50cm (-0.6SD), weight 22kg (-0.6SD); developmental delay; speech delay, mixed receptive-expressive language disorder; febrile seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis; no narrow palpebral fissures; no epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; periorbital fullness, nevus flameus; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild alanine transaminase elevation, low am cortisol, thyroid-stimulating hormone elevation; thin skin with visible veins, hirsuite legs, chronic constipation Familial, autosomal recessive 10y - - - - LOVD 00376978
0000272172 congenital glycosylation disorder - birth full term, weight 3940g, length 53,3cm; OFC 50cm (0.0SD), weight 14.8kg (0.0SD); developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; noi behavioral disturbances; history of central apnea; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild aspartate transaminase elevation, low am cortisol, hypercholestrolemia, iron deficiency; thin skin with visible veins, hirsuite legs, chronic constipation, gastro-esophageal reflux, obstructive sleep apnea Familial, autosomal recessive 6y - - - - LOVD 00376979
0000272173 congenital glycosylation disorder - birth full term, weight 3685g; length 79cm (-1.0SD, 18 mo), 18m-OFC 48cm (0.0SD), 18m-weight 9.4kg (-1.9SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; failure to thrive; narrow palpebral fissures; no epicanthal folds; increased nasal height; bulbous tip; hypoplastic alae nasi; smooth philtrum; short philtrum; thin upper lip; retrognatia; deep set eyes, intermittent strabismus, cleft palate; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; atypical hair growth pattern and whorl, early feeding difficulties required nasogastric tube Familial, autosomal recessive 7y - - - - LOVD 00376980
0000272174 congenital glycosylation disorder - birth full term, weight 3323g; length 91cm (-1.7SD, 45 mo), 45m-OFC 47.5cm (-1.3SD), 45m-weight 12.7kg (-1.6SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; concern for central apnea; MRI brain corpus callosum agenesis, periventriciular leucomalacia; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; downslanting fissures, mild ptosis, hypertelorism; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; constipation, ansomia, nonfamilial short stature, poor weight gain Familial, autosomal recessive 3y - - - - LOVD 00376981
0000272175 congenital glycosylation disorder - birth-42w, weight 3820g; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; no narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; broad nasal bridge, hypertelorism; right-sided strabismus; low set ears; normal extremities; no genital abnormalities; decreased intake at 7 months and diagnosed with gastro-esophageal reflux at 7 months, at 9 months completely stopped intake: nasogastric tube fed, two episodes of tachycardia at rest in hospital (170-180 bpm) with no obvious cause noted in hospital and is occasionally tachycardic at home as well, gastroscopy did not show abnormalities, currently percutaneous endoscopic gastrostomy in situ Familial, autosomal recessive 5y - - - - LOVD 00376982
0000272176 congenital glycosylation disorder - birth-40w+0, weight 3030g, length 52cm; mild intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; delayed responses in social situations; history of central apnea as baby, self limiting; no narrow palpebral fissures; epicanthal folds (Hindu); increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; droopy eyelids, high palate, full lips, low posterior hair line, mild webbing of the shoulders, narrow temporal skull; no eye abnormalities; no ear abnormalities; born with a Poland sequence: left arm muscles and pectoral muscle underdeveloped, left wrist impaired supination and pronation, mild atrophy of the left thenar muscle and short metacarpal bones of the first digits.; dextrocardia and a mild thoracic scoliosis Familial, autosomal recessive 33y - - - - LOVD 00376983
0000279560 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); meta-physeal dysplasia; osteoarthritis; muscle cramps; no muscle hypertrophy; mild intellectual disability Familial, autosomal dominant 55y 45y - - - Johan den Dunnen 00385747
0000279561 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; normal; no long face; no high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability Familial, autosomal dominant 30y 20y - - - Johan den Dunnen 00385748
0000279562 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC 95th; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); short arms; osteoarthritis; muscle cramps; muscle hypertrophy; mild intellectual disability Familial, autosomal dominant 27y 17y - - - Johan den Dunnen 00385749
0000279563 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); no skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability Familial, autosomal dominant 42y 39y - - - Johan den Dunnen 00385750
0000279564 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; 75th pc; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; abnormal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy Familial, autosomal dominant 3y 3m - - - Johan den Dunnen 00385751
0000279565 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; abnormal fat-distribution; no motor developmental delay; mild speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; MRI brain persistent cavum septum pellucidum; obesity; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; eczema, hyper-trichosis Isolated (sporadic) 15y 10y - - - Johan den Dunnen 00385752
0000279566 congenital disorder of glycosylation CDG1W intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); epi-metaphyseal dysplasia; no osteoarthritis; muscle cramps; muscle hypertrophy; moderate intellectual disability; normal pregnancy Isolated (sporadic) 24y 22y - - - Johan den Dunnen 00385753
0000279567 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; no osteoarthritis; no muscle cramps; intellectual disability Unknown 18y 8y - - - Johan den Dunnen 00385754
0000279568 congenital disorder of glycosylation CDG1W intrauterine growth retardation; OFC 3rd; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; long/protruding ears; thin upper lip vermilion; prognathism; inverted nipples; abnormal fat-distribution; severe motor developmental delay; speech delay, nonverbal; learning problems; increased muscle tone, spastic diplegia; aggressivity; strabismus, retinal dystrophy; MRI brain arachnoid cyst, large posterior fossa; failure to thrive; short stature (-2SD); spondylo-metaphyseal dysplasia brachydactyly; no osteoarthritis; muscle cramps; muscle hypertrophy (biceps/quadriceps); severe intellectual disability; mastoid granulomatosis Isolated (sporadic) 12y 7m - - - Johan den Dunnen 00385755
0000279569 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC 25th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (<-2SD); scoliosis, dysplastic L5 vertebra; no osteoarthritis; no muscle cramps; muscle hypertrophy (biceps/quadriceps); no intellectual disability; easy bruising Unknown 27y 14y - - - Johan den Dunnen 00385756
0000279570 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC >98th; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; learning problems; aggressivity; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; delayed puberty dysarthria Unknown 39y 28y - - - Johan den Dunnen 00385757
0000279571 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; mild motor developmental delay; moderate speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; constipation; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; moderate intellectual disability; delayed puberty Familial, autosomal dominant 11y 9m - - - Johan den Dunnen 00385758
0000279572 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; moderate motor developmental delay; speech delay, nonverbal; learning problems, autism; no increased muscle tone, hypotonia; no behavior abnormalities; strabismus; MRI brain perinatal subdural hematoma; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; severe intellectual disability Familial, autosomal dominant 7y 7m - - - Johan den Dunnen 00385759
0000279573 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC >99th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild-moderate motor developmental delay; mild-moderate speech delay; learning problems; no increased muscle tone, hypotonia; no behavior abnormalities; no strabismus; no short stature; large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy Familial, autosomal dominant 3y 21d - - - Johan den Dunnen 00385760
0000279574 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; –; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; muscle cramps; no muscle hypertrophy; no intellectual disability; spherocytosis Unknown 30y 30y - - - Johan den Dunnen 00385761
0000279575 congenital disorder of glycosylation CDG1W no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; spherocytosis Familial, autosomal dominant 3y 3y - - - Johan den Dunnen 00385762
0000279576 congenital disorder of glycosylation CDG1W no intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, feeding problems, no respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, weak visual tracking, no optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, no liver involvement, no thrombocytopenia, no genital abnormalities Familial, autosomal recessive 13y - - - - Johan den Dunnen 00385763
0000279577 congenital disorder of glycosylation CDG1X intrauterine growth retardation; 4y-deceased; microcephaly, failure to thrive, developmental delay, feeding problems, respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, no visual tracking, optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, liver involvement, thrombocytopenia; genital abnormalities, micropenis, hypoplastic scrotum, undescended testes Familial, autosomal recessive 04y - - - - Johan den Dunnen 00385764
0000279579 congenital disorder of glycosylation CDG1W see paper; ..., microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; abnormal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy Familial, autosomal recessive 11y - - - - Johan den Dunnen 00385766
0000279580 congenital disorder of glycosylation CDG1W see paper; ..., no microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; normal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy Familial, autosomal recessive 6y - - - - Johan den Dunnen 00385767
0000279581 congenital disorder of glycosylation CDG1W see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy Familial, autosomal recessive 28y - - - - Johan den Dunnen 00385768
0000279582 congenital disorder of glycosylation CDG1W see paper; ..., no microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy Familial, autosomal recessive 20y - - - - Johan den Dunnen 00385769
0000279583 congenital disorder of glycosylation CDG1W see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; self-injurious behavior; no sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy Familial, autosomal recessive 17y - - - - Johan den Dunnen 00385770
0000302861 developmental delay CDG see paper; ..., birth weight 2500gOFC 35cm; 3m-developmental delay, no head control Familial, autosomal recessive 14y - 00y03m - - Johan den Dunnen 00410770
0000311200 congenital disorder of glycosylation CDG2B see paper; ..., brachycephaly; no short palperal fissure; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; optic nerve atrophy; strabismus; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2w-onset seizures, focal seizures; EEG-5y-sharp wave complexs in temporal regions; persistence of primary teeth; osteopenia; scoliosis; low level of IgG (317), IgA (<7), IgM (21); recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; aminoaciduria; no hydronephrosis; hypoplastic genitalia; VitD deficiency, hyperinsulinemia, hyperparathyroidism, premature adrenarche; bronchiectasis Familial, autosomal recessive 15y10m - - - - Johan den Dunnen 00419933
0000311201 congenital disorder of glycosylation CDG2B see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; -; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; nystagmus; strabismus; astigmatism, exotropia, dry eye; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2d-onset seizures, focal seizures; EEG-alternating epileptiform activity in both hemisphere; hyperdontia; osteopenia; scoliosis; low level of IgG (142), IgA (17), IgM (21); recurrent infections; no hypoventilation; no apnea; dilated aortic root; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; premature adrenarche, hyperinsulinemia; Familial, autosomal recessive 10y11m - - - - Johan den Dunnen 00419934
0000311202 congenital disorder of glycosylation CDG2B see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; strabismus; exotropia, dry eye; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; <2m-onset seizures, tonic seizures with eye deviation; EEG-1m-suppression-burst pattern; osteopenia; scoliosis; mildly low level of IgG 645 (698-1560), IgA 37, IgM 28; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly; no hypoalbuminemia; mild elevated AST and ALT; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; VitD deficiency, premature adrenarche; FXI 52% (74-157), FV 52% (53-136), protein S 50% (55-134); Familial, autosomal recessive 11y1m - - - - Johan den Dunnen 00419935
0000311203 congenital disorder of glycosylation CDG2B see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; no nystagmus; strabismus; developmental delay; intellectual disability; hypotonia; sensorineural hearing impairment; 2m-onset seizures, focal tonic seizures; EEG-multifocal spikes arising from both central regions; microdontia, Riga-Fede; osteopenia; no scoliosis; low level of IgG; 367 (16m), 487 (20m), normal IgA, IgM; recurrent infections; hypoventilation; apnea; atrial septal defect, PFO, PDA; bicuspid aortic valve; constipation; gastroesophageal reflux; hepatomegaly; hypoalbuminemia; mild elevated AST and ALT; hydronephrosis; no hypoplastic genitalia; congenital hypothyroidism secondary to an ectopic thyroid gland treatment; line associated thrombus, thrombocytopenia, APTT 43 sec (25-35), ATIII 135 % (75-125), F8 163 (50-150); GI bleeding, gut dysmotility Familial, autosomal recessive 1y6m - - - - Johan den Dunnen 00419936
0000311204 congenital disorder of glycosylation CDG2B see paper; ..., 3m15d-deceased; brachycephaly; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; no visual impairment; no nystagmus; no strabismus; developmental delay; hypotonia; 6w-onset seizures, focal seizures; EEG-multifocal spikes; no dental abnormalties; no scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; PDA, PFO; no constipation; hepatomegaly; hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; hepatic thrombosis; coagulation screening negative Familial, autosomal recessive 3m15d - - - - Johan den Dunnen 00419937
0000311205 congenital disorder of glycosylation CDG2B see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2d-onset seizures, generalized tonic-clonic seizures; EEG-compatible with West syndrome; delayed eruption; osteopenia; no scoliosis; low level of IgG (135), IgA (<7), IgM (13); recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly, liver steatosis; normal aminotransferase; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; Familial, autosomal recessive - - - - - Johan den Dunnen 00419938
0000311206 congenital disorder of glycosylation CDG2B see paper; ..., no short palperal fissure; no broad nasal tip or nasal arch; no high-arched palate; no smooth philtrum; no retrognathia; hand or finger deformities; no limb and foot defomities; developmental delay; intellectual disability; hypotonia; 6m-onset seizures; EEG-epileptic cerebral dysfunction (both central regions); no scoliosis; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; low TSH and low limit of normal T4; pancreatic dysfunction, eczema, FTT Familial, autosomal recessive 3y5m - - - - Johan den Dunnen 00419939
0000311207 congenital disorder of glycosylation CDG2B see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; no broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; no limb and foot defomities; no visual impairment; no nystagmus; no strabismus; small lens opacity (left), hyperopia, astigmatism; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; caries; no scoliosis; recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; Familial, autosomal recessive 6y6m - - - - Johan den Dunnen 00419940
0000311208 congenital disorder of glycosylation CDG2B see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; no retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; no nystagmus; no strabismus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; no seisures; EEG-abnormal; no dental abnormalties; no bone abnormalties; no scoliosis; hypogammagloblinemia, transient; no recurrent infections; noctural hypoxemia; no apnea; cardiac abnormalities; constipation; hepatomegaly; no hypoalbuminemia; mild transient elevated AST and ALT; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; laryngomalacia, G-tube, swallow dysfunction, mild pectus excavatum Familial, autosomal recessive 1y11m - - - - Johan den Dunnen 00419941
0000311209 congenital disorder of glycosylation CDG2B see paper; ..., no brachycephaly; no short palperal fissure; long eyelashes; no broad nasal tip or nasal arch; ; no visual impairment; no nystagmus; no strabismus; hyperopia; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; no dental abnormalties; no bone abnormalties; no scoliosis; low level of IgG, IgA, IgM; no recurrent infections; no hypoventilation; central and obstructive apnea; cardiac abnormalities; no constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no hypoplastic genitalia; laryngomalacia, central apnea Familial, autosomal recessive 1y4m - - - - Johan den Dunnen 00419942
0000311210 congenital disorder of glycosylation CDG2B see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; cortical visual impairment; developmental delay; hypotonia; sensorineural hearing impairment; no seisures; EEG-possible left posterior epileptiform activity; osteopenia; no scoliosis; normal IgM, very low IgG and IgA; recurrent infections; hypoventilation; apnea; intraatrial connection; no constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; mild left-sided pelvicalyceal dilatation in kidney Familial, autosomal recessive 21d - - - - Johan den Dunnen 00419943
0000311211 congenital disorder of glycosylation CDG2B see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; no high-arched palate; smooth philtrum; no downturned corner of mouth; retrognathia; hirsutism; no hand or finger deformities; no limb and foot defomities; cortical visual impairment; nystagmus; strabismus; hypermetropic astigmatism; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2w-onset seizures, tonic seizures, epileptic spasm, focal status; EEG-1m-burst supression and multifocal epileptiform activity; large overbite; no bone abnormalties; no scoliosis; normal IgM, low IgG, IgA; no recurrent infections; no hypoventilation; no apnea; perimembranous ventricular septal defect (closed by 17m); constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild transient elevated AST; no aminoaciduria; Familial, autosomal recessive 5y2m - - - - Johan den Dunnen 00419944
0000311212 congenital disorder of glycosylation CDG2B see paper; ..., 74d-deceased; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; abnormal VER; developmental delay; intellectual disability; hypotonia; demyelinating polyneuropathy; sensorineural hearing impairment; 21d-onset seizures, rhythmic clonic jerks, rhythmic vertical eye movements and tonic spasms; EEG-uppression-burst patterns; scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; hepatomegaly, hepatosplenomegaly; mild elevated AST; hypoplastic genitalia; APTT 63.4 (<37); Familial, autosomal recessive 74d - - - - Johan den Dunnen 00419945
0000311213 congenital disorder of glycosylation CDG2B see paper; ..., 4m-deceased; brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; mild anterior subcapsular opacity; developmental delay; intellectual disability; hypotonia; no seisures; low level of IgA, IgM; hypoventilation; apnea; atrial septal defect, LVH; hepatomegaly; ; no hypoplastic genitalia; SIADH, hypothyroidism; thrombocytopenia; Familial, autosomal recessive 4m - - - - Johan den Dunnen 00419946
0000311214 congenital disorder of glycosylation CDG2B see paper; ..., 9m-deceased; long eyelashes; no broad nasal tip or nasal arch; high-arched palate; ; developmental delay; sensorineural hearing impairment; no seisures; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism; Familial, autosomal recessive 9m - - - - Johan den Dunnen 00419947
0000311215 congenital disorder of glycosylation CDG2B see paper; ..., 10m-deceased; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; high-arched palate; ; ; ; developmental delay; ; sensorineural hearing impairment; no seisures; ; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism; Familial, autosomal recessive 10m - - - - Johan den Dunnen 00419948
0000311216 congenital disorder of glycosylation CDG2B see paper; ..., short palperal fissure; broad nasal tip or nasal arch; ; ; low vision; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; <1m-onset seizures, infantile spasms; EEG-atypical hypsarrhythmia; ; low level of IgG, IgM; recurrent infections; no hypoventilation; no apnea; atrial septal defect, PFO; hepatomegaly; elevated aminotransferase; aminoaciduria; no hypoplastic genitalia; Familial, autosomal recessive 2y1m - - - - Johan den Dunnen 00419949
0000311217 congenital disorder of glycosylation CDG2B see paper; ..., 1y-deceasedbroad nasal tip or nasal arch; ; hirsutism; ; ; developmental delay; ; 21d-onset seizures; ; low level of IgA; recurrent infections; hypoventilation; apnea; cardiomyopathy; hepatomegaly; hydronephrosis; intravascular; hypogonadism Familial, autosomal recessive 1y - - - - Johan den Dunnen 00419950
0000311218 congenital disorder of glycosylation CDG2B see paper; ..., long eyelashes; broad nasal tip or nasal arch; no smooth philtrum; retrognathia; hirsutism; visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; <12m-onset seizures, tonic seizure, spasms; EEG-no hypsarrhythmia, multifocal spikes; bone abnormalties; low IgG2; recurrent infections; gastroesophageal reflux; ; ; elevated cortisol, progesterone, androstenedion; chronic lymphocytosis; Familial, autosomal recessive 19y - - - - Johan den Dunnen 00419951
0000311219 congenital disorder of glycosylation CDG2B see paper; ..., short palperal fissure; broad nasal tip or nasal arch; high-arched palate; no smooth philtrum; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; intellectual disability; hypotonia; demyelination; sensorineural hearing impairment; 2m-onset seizures, myoclonic seizures, generalized tonic seizure; EEG-suppression burst pattern, small spike at occipital-parietal-temporal; low IgA (median 21, 10-451), IgG (median 535, 408-1380); recurrent infections; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; hypoplastic genitalia; hyponatremia; thrombocytopenia coagulation; transient atrioventricular block, arthrogryposis Familial, autosomal recessive 13y - - - - Johan den Dunnen 00419952
0000311220 congenital disorder of glycosylation CDG2B see paper; ..., 9m-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 17d-onset seizures, myoclonic jerks; EEG-suppression burst pattern; ; low IgA (median 63, 49-102), IgG (median 718, 348-1190); recurrent infections; no hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; ; cirrhosis, arthrogryposis Familial, autosomal recessive 9m - - - - Johan den Dunnen 00419953
0000311221 congenital disorder of glycosylation CDG2B see paper; ..., 9y-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 32d-onset seizures, generalized tonic seizure; EEG-suppression burst pattern; ; low IgA (median 19, 11-27), IgG (540, 495-584); recurrent infections; hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase and ALT; ; cirrhosis, arthrogryposis Familial, autosomal recessive 9y - - - - Johan den Dunnen 00419954
0000311222 congenital disorder of glycosylation CDG2B see paper; ..., multiple neurologic complications, paradoxical immunologic phenotype, severe hypogammaglobulinemia, limited clinical evidence of infectious diathesis Familial, autosomal recessive - - - - - Johan den Dunnen 00419955
0000346416 glycosylation disorder CDG1DD see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; no epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral hypoplasia cranial nerves V, VII and VIII; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; hepatosplenomegaly in infancy; obstipation; hypertrichosis arms and legs; severe apnea episodes; contractures elbows and knees Familial, X-linked recessive 7y - - - - Johan den Dunnen 00457966
0000346417 glycosylation disorder CDG1DD see paper; ..., 11m-deceased; facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; bilateral sensorineural hearing loss, auditory evoked potentials inconclusive; MRI brain small corpus callosum; no ophthalmological anomalies; failure to thrive; gastrostomy tube feeding; cholestasis, hepatomegaly; ichthyosis; persistent ductus arteriosus Familial, X-linked recessive 11m - - - - Johan den Dunnen 00457967
0000346418 glycosylation disorder CDG1DD see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain mild thinning corpus callosum, bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; eczema; stridor; severe obstructive sleep apnea requiring BiPAP; scoliosis; knee contractures Familial, X-linked recessive 6y - - - - Johan den Dunnen 00457968
0000346419 glycosylation disorder CDG1DD see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; corneal erosion right eye; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; no dermatological findings; stridor; respiratory insufficiency requiring BiPAP; scoliosis knee contractures Familial, X-linked recessive 4y - - - - Johan den Dunnen 00457969
0000350353 PGM1 deficiency ssmg see paper; ..., Isolated (sporadic) - - - - - Johan den Dunnen 00464290
0000350810 congenital disorder of glycosylation - see paper; ..., 5y-deceasaed; birth OFC 34.5 cm (-1.02); OFC 4m-38.1 cm (-3.95); cranial dysmorphism; severe developmental delay; central hypotonia, limb hypertonia; neonatal onset tonic-clonic seizures; MRI brain periventricular heterotopia, mild delay in myelination; enlarged kidneys with cystic foci, cryptorchidism; hepatomegaly with periportal echogenicity/fibrosis; patent foramen ovale, patent ductus arteriosus; overlapping fingers and toes, scoliosis, wide sandal gap; horizontal nystagmus; central apnea, feeding difficulties, hearing impairment, respiratory failure Familial, autosomal recessive 5y - - - - Johan den Dunnen 00465272
0000350811 congenital disorder of glycosylation - see paper; ..., birth OFC 33.5 cm (-1.14); OFC 9y10m-52.8 cm (-1.02); no cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability; normal muscle tone; severe, medically refractory seizures; autism, challenging behavior; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies Familial, autosomal recessive 17y7m - - - - Johan den Dunnen 00465273
0000350812 congenital disorder of glycosylation - see paper; ..., 7m-deceasaed; birth OFC 32.5 cm (-0.66); cranial dysmorphism; severe developmental delay; limb contractures; no seizures; MRI brain periventricular heterotopia, hypoplastic cerebellum and optic nerves; cystic renal dysplasia, cryptorchidism, short penis; intra- and extrahepatic bile duct dilation; hypoplastic aortic arch, patent ductus arteriosus, atrial septal defect; contractures, upper thoracic hemivertebra; bilateral coloboma; cleft lip and palate, sensorineural hearing loss, failure to thrive, hernias, respiratory failure, aortic and inferior vena cana thrombi Familial, autosomal recessive 7m - - - - Johan den Dunnen 00465274
0000350813 congenital disorder of glycosylation - see paper; ..., deceasaed (fetus); MRI brain cystic post-fossa (antenatal scan); double outlet right ventricle, transposition great arteries, ventricular septal defect, hypoplastic pulmonary valve with pulmonary stenosis; cleft lip and palate, cystic abdominal mass, lung hypoplasia Familial, autosomal recessive <0d - - - - Johan den Dunnen 00465275
0000350814 congenital disorder of glycosylation - see paper; ..., birth OFC 34 cm (−0.47); OFC 16y4m-54.6 cm (-1.25); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; hypotonia (infancy), normal; febrile onset then afebrile, partial complex, and GTC; autism, severe self-injury; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; hypothyroidism Familial, autosomal recessive 20y - - - - Johan den Dunnen 00465276
0000350815 congenital disorder of glycosylation - see paper; ..., cranial dysmorphism; developmental delay; lower limb hypertonia; recurrent febrile seizures; hyperactive; MRI brain normal Familial, autosomal recessive 14y - - - - Johan den Dunnen 00465277
0000350816 congenital disorder of glycosylation - see paper; ..., microcephaly; cranial dysmorphism; severe developmental delay; severe intellectual disability; hypotonia (infancy), hypertonia; focal seizures; hyperactive; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies Familial, autosomal recessive 9y - - - - Johan den Dunnen 00465278
0000350817 congenital disorder of glycosylation - see paper; ..., OFC 51.5 cm (-2.63); cranial dysmorphism; severe developmental delay; severe intellectual disability; febrile seizures; hyperactive, stereotypies; MRI brain normal; cryptorchidism; no hepatobiliary anomalies Familial, autosomal recessive 14y - - - - Johan den Dunnen 00465279
0000350818 congenital disorder of glycosylation - see paper; ..., birth OFC 37 cm (1.41); OFC 51 cm (-2.18); cranial dysmorphism; severe developmental delay; severe Intellectual disability; normal muscle tone; absence seizures, myoclonic seizures, generalized tonic clonic seizures; stereotypies, anxiety; MRI brain bilateral high T2/low T1 signal in the putamina; no genitourinary anomalies; no hepatobiliary anomalies; no hepatobiliary anomalies; no skeletal anomalies; strabismus Familial, autosomal recessive 10y - - - - Johan den Dunnen 00465280
0000350819 congenital disorder of glycosylation - see paper; ..., 8y-deceasaed; birth OFC 33.7 cm (-1.18); severe developmental delay; severe Intellectual disability; febrile clonic seizures; MRI brain hypoplastic corpus callosum; bilateral dilated pyelum and hydronephrosis, mega-ureter; bicuspid aortic valve, patent ductus arteriosus; cyclic neutropenia Familial, autosomal recessive 8y - - - - Johan den Dunnen 00465281
0000350820 congenital disorder of glycosylation - see paper; ..., 7y-deceasaed; birth OFC 32.5 cm (-0.95); OFC 3y-45.5 cm (-4.01); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; central hypotonia; febrile clonic seizures; stereotypies; MRI brain L mesial temporal sclerosis, asymmetric cerebral hemisphere atrophy; no genitourinary anomalies; no hepatobiliary anomalies; small ventricular septal defect; no skeletal anomalies; cortical blindness; cyclic neutropenia Familial, autosomal recessive 7y - - - - Johan den Dunnen 00465282
0000350821 congenital disorder of glycosylation - see paper; ..., birth OFC 33 cm (-1.20); OFC 46.5 cm (-5.85); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ25); hypertonia; tonic seizures, generalized tonic clonic seizures; autism, hyperactive; MRI brain hypoplastic corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism Familial, autosomal recessive 10y7m - - - - Johan den Dunnen 00465283
0000350822 congenital disorder of glycosylation - see paper; ..., birth OFC 33.5 cm (-0.90); OFC 48.5 cm (-3.43); cranial dysmorphism; severe developmental delay; severe intellectual disability (IQ35); hypertonia; no seizures; autism, hyperactive; MRI brain bright hippocampi; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism Familial, autosomal recessive 8y1m - - - - Johan den Dunnen 00465284
0000350823 congenital disorder of glycosylation - see paper; ..., birth OFC 34 cm (-0.95); OFC 49 cm (-2.77); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ30); hypertonia; tonic seizures; autism, hyperactive; MRI brain abnormal T2 signal in anterior temporal lobes; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism Familial, autosomal recessive 6y3m - - - - Johan den Dunnen 00465285
0000350824 congenital disorder of glycosylation - see paper; ..., birth OFC 34 cm (-0.47); OFC 42.5 cm (-3.97); cranial dysmorphism; moderate developmental delay; hypertonia; no seizures; autism, anxiety; MRI brain thin corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; nystagmus Familial, autosomal recessive 11m - - - - Johan den Dunnen 00465286
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