Disease #00126 (SCKL (Seckel syndrome (SCKL)))

Official abbreviation SCKL
Name Seckel syndrome (SCKL)
OMIM ID -
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 11
Associated with 6 genes ATR, CENPJ, CEP152, CEP63, NIN, RBBP8
Associated tissues -
Disease features -
Remarks -
Date created 2013-05-07 07:32:22 +02:00 (CEST)
Date last edited 2023-03-14 15:38:11 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00001220 - - performed exome/genome analysis, detected possibly causative variants but have not yet sufficient evidence to publish - please contact me M no - - - 1 - - SCKL - - - - 1 Gijs Santen
00004055 - PubMed: Shaheen 2014, Journal: Shaheen 2014 3-generation family, affected uncle (II5)/nephew (III1), unaffected carrier parents (2) and relatives (1) M yes Saudi Arabia Arab - - - - SCKL characteristic Seckel facies, severe kyphoscoliosis leading to spinal cord compression and paraplegia, global developmental delay and intellectual disability DNA2 DNA2 1 5 Fowzan Alkuraya
00114686 Fam1Pat1 PubMed: Griffith 2008 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - SCKL Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay; MRI thin corpus callosum, increased extra-axial spaces, reduced white matter; 46XY PCNT PCNT 1 2 Emmelien Aten
00114687 Fam1Pat2 PubMed: Griffith 2008 sister F - Saudi Arabia - - - - - SCKL Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX. PCNT PCNT 1 1 Emmelien Aten
00114689 Fam3 PubMed: Griffith 2008 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents F yes Kuwait - - - - - SCKL Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small broken?? teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal PCNT PCNT 1 1 Emmelien Aten
00114694 Fam4 PubMed: Griffith 2008 2-generation family, 1 affected, unaffected heterozygous carrier 1st-cousin parents M yes Morocco - - - - - SCKL Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain. PCNT PCNT 1 1 Emmelien Aten
00249443 - - - F no France - - - - - SCKL primary microcephaly ATR ATR 2 1 REVY
00249445 - PubMed: Goodship 2000 4-generation consanguineous family, 2 affecteds (M, F), unaffected carriers - yes Pakistan - - - - - SCKL - ATR ATR 1 2 LOVD
00249446 - PubMed: Goodship 2000 5-generation consanguineous family, 3 affected males; unafected carriers M yes Pakistan - - - - - SCKL - ATR ATR 1 3 LOVD
00460158 patient PubMed: Piane 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - SCKL see paper; ..., prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead, receded hairline, sparse scalp hair, beaked nose, mild retrognathia, hypotonia; 3y-paralyzed due to cerebrovascular malformation; X-ray 3y-high iliac wings, narrow ischia/pubis, overtubulated long bones, delta-shaped distal femoral metaphysis,marked widening PCNT PCNT 1 1 Johan den Dunnen
00462568 CV1720 Journal: Ogi 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Japan India-Gujarati - - - - SCKL see paper; ..., severe microcephaly, growth delay, dysmorphic facial feature; birth weight 2.06kg, OFC 27.1cm; 14m-- weight -5 SD, height -5 SD, OFC -9 SD; micrognathia, receding forehead, prominent nose; dental crowding; small ear lobes; bilateral 5th finger clinodactyly; delayed bone age (wrist/hips), symmetric dwarfism; MRI 14m-generalised cerebral atrophy, normal ventricular systems, delayed myelination anterior limb internal capsule, pituitary present though unusual shape with absent fossa ATRIP ATRIP 5 1 Johan den Dunnen
00462569 27-4BI Journal: Ogi 2012 - - - England - - - - - SCKL see paper; ..., birth weight 1.15kg, height 36cm, OFC 27cm; 20m weight -8 SD, height -8 SD, OFC -10 SD; micrognathia, prominent nose, hypoplastic alae nasi, low set columella, deep set short palpebral fissures; 20m-4 teeth; ears mall, round, low set, poorly formed antihelix tragus/antitragus, sbsent lobes; small hands, tapering fingers; symmetric dwarfism; small patellae; no joint hypermobility, no kyphoscoliosis; normal skin pigmentation; small feet with metatarsus adductus ATR ATR 2 1 Johan den Dunnen
00462570 19-8BI Journal: Ogi 2012 - - - England - - - - - SCKL see paper; ..., birth weight 0.77kg, OFC 24.2cm; 4y6m weight -7 SD, height -8 SD, OFC -10 SD; micrognathia, blepharophimosis, short palpebral fissures, prominent nose, high nasal bridge, high anterior hairline; dental crowding; small ears, no lobes; bilateral 5th finger clinodactyly, 5th metacarpels appear short, blue colouration to both thenar eminence;s ymmetric dwarfism; copper beaten skull; 4y-no ossification patellae; marked hip/shoulder flexibility; no kyphosis; MRI 2y-abnormal gyration posterior aspect cingulated gyrus extending into thparietal occipital region, hypoplastic corpus collasum; normal skin pigmentation; developmental delay, 15m-sit, 3y10m-wal; high pitched voice, asthma, multiple chest infections, feeding difficulties-reflux (gastrostomy fed); 17m-multiple liver cysts consistent with Caroli's disease ATR ATR 2 1 Johan den Dunnen
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