CK syndrome

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.



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Narrow down the case reports



Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 19842190
 Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.
Am J Med Genet A. 2009;149A(11):2469-78.
Micrognathia Upslanted palpebral fissure
rs121909833
Adult Body Constitution Child Child, Preschool Facies Fatal Outcome Females Hand Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Mental Retardation, X-Linked Microcephaly Middle Aged Pregnancy
        

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000276 Long face Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000308 Microretrognathia Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000678 Dental crowding Very frequent (99-80%)
HP:0000737 Irritability Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001302 Pachygyria Very frequent (99-80%)
HP:0001533 Slender build Very frequent (99-80%)
HP:0002126 Polymicrogyria Very frequent (99-80%)
HP:0002357 Dysphasia Very frequent (99-80%)
HP:0002360 Sleep disturbance Very frequent (99-80%)
HP:0002538 Abnormality of the cerebral cortex Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0002938 Lumbar hyperlordosis Very frequent (99-80%)
HP:0007874 Almond-shaped palpebral fissure Very frequent (99-80%)
HP:0010511 Long toe Very frequent (99-80%)
HP:0025406 Asthenia Very frequent (99-80%)
HP:0100807 Long fingers Very frequent (99-80%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0000718 Aggressive behavior Frequent (79-30%)
HP:0000752 Hyperactivity Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001382 Joint hypermobility Frequent (79-30%)
HP:0003107 Abnormal circulating cholesterol concentration Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NSDHL NAD(P) dependent steroid dehydrogenase-like 50814