| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (54.5%) |
28003643 (5370204) |
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. J Hum Genet. 2017;62(4):465-471. |
| Brachycephaly Blepharophimosis Hallux varus | ||
| c|DEL|3139_3141| p|DEL|1047_1047| rs1304422857 | ||
| Adult Carrier Proteins Child Child, Preschool Congenital Hand Deformities Differential Diagnosis Eczema Eye Abnormalities Face Facies Females GTPase-Activating Proteins Growth Disorders Homo sapiens Intellectual Disability Limb Deformities, Congenital Male Membrane Proteins Microcephaly Micrognathism Mutation Neck Nerve Tissue Proteins Sequence Analysis, DNA | ||
| 2 (52.0%) |
17994565 |
DOOR syndrome: clinical report, literature review and discussion of natural history. James AW, Miranda SG, Culver K, Hall BD, Golabi M. Am J Med Genet A. 2007;143A(23):2821-31. |
| Coarse facial features Absent distal phalanges | ||
| Bone Diseases Deafness Females Homo sapiens Infant, Newborn Intellectual Disability Male Nail Diseases Phenotype Syndrome | ||
| 3 (41.0%) |
24357154 |
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D. Am J Med Genet A. 2014;164A(3):648-54. |
| Hernia Cleft lip | ||
| Congenital Hand Deformities Craniofacial Abnormalities Diaphragmatic Hernia Facies Fatal Outcome Females Homo sapiens Indian Ocean Islands Infant Intellectual Disability Limb Deformities, Congenital Male Nails, Malformed Phenotype | ||
| 4 (39.0%) |
11045579 |
Further delineation of the DOOR syndrome. Rajab A, Riaz A, Paul G, Al-Khusaibi S, Chalmers R, Patton MA. Clin Dysmorphol. 2000;9(4):247-51. |
| Microcephaly | ||
| Bone Diseases Deafness Females Homo sapiens Infant, Newborn Intellectual Disability Male Nails, Malformed Nuclear Family Syndrome | ||
| 5 (33.7%) |
26023614 |
Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report. Nair LD, Sagayaraj B, Kumar R. J Clin Diagn Res. 2015;9(4):SD01-3. |
| Long philtrum | ||
| TBC1D24 | ||
| 6 (4.0%) |
28663785 (5473401) |
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, Craig DW, Campeau PM, Narayanan V, Schrauwen I. F1000Res. 2017;6:553. |
| Psychosis | ||
| TBC1D24 | ||
| rs1057519629 rs1057519630 rs747538224 rs756181906 rs796053403 | ||
| 6 (4.0%) |
25769375 |
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. Poulat AL, Ville D, de Bellescize J, Andre-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G. Epilepsy Res. 2015;111:72-7. |
| Intellectual disability | ||
| c|SUB|G|457|A;RS#:376712059 p|SUB|E|153|K;RS#:376712059 rs376712059 rs747538224 rs756181906 rs796053403 | ||
| Brain Carrier Proteins Child Child, Preschool Electroencephalography Face GTPase-Activating Proteins Hand Homo sapiens Intellectual Disability Male Membrane Proteins Missense Mutation Myoclonic Epilepsy Nerve Tissue Proteins Sibling | ||
| 6 (4.0%) |
25557349 |
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. Straiar BG, Neubauer D, Paro Panjan D, Writzl K. Eur J Paediatr Neurol. 2015;19(2):251-6. |
| Seizure | ||
| TBC1D24 | ||
| c|DEL|1008|T;RS#:398122967 c|SUB|A|32|G p|FS|H|336|Q|12;RS#:398122967 p|SUB|D|11|G | ||
| Brain Diseases Carrier Proteins Developmental Disabilities Electroencephalography Epilepsy Fatal Outcome Females GTPase-Activating Proteins Genes, Recessive Homo sapiens Infant Infant, Newborn Male Membrane Proteins Missense Mutation Mutation Myoclonic Epilepsy Nerve Tissue Proteins Sibling Tonic-Clonic Epilepsy | ||
| 6 (4.0%) |
21743113 |
DOOR syndrome. Girish M, Mujawar N, Salodkar A. Indian Pediatr. 2011;48(6):479-81. |
| Seizure | ||
| Epilepsies, Partial Homo sapiens Infant Intellectual Disability Male Nail Diseases Syndrome | ||
| 6 (4.0%) |
19830001 (2740216) |
Anaesthetic management of an adult patient with DOOR syndrome: a case report. Michalek P, Donaldson W, Abraham A. Cases J. 2009;2:7593. |
| Seizure | ||
Total: 89
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000212 | Gingival overgrowth | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0001167 | Abnormality of finger | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001780 | Abnormality of toe | Very frequent (99-80%) |
| HP:0001817 | Absent fingernail | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0008388 | Abnormal toenail morphology | Very frequent (99-80%) |
| HP:0012810 | Wide nasal base | Very frequent (99-80%) |
| HP:0100797 | Toenail dysplasia | Very frequent (99-80%) |
| HP:0000179 | Thick lower lip vermilion | Frequent (79-30%) |
| HP:0000194 | Open mouth | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000294 | Low anterior hairline | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000414 | Bulbous nose | Frequent (79-30%) |
| HP:0000474 | Thickened nuchal skin fold | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0002033 | Poor suck | Frequent (79-30%) |
| HP:0002069 | Generalized tonic-clonic seizures | Frequent (79-30%) |
| HP:0002384 | Focal impaired awareness seizure | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0009237 | Short 5th finger | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe | Frequent (79-30%) |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration | Frequent (79-30%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000121 | Nephrocalcinosis | Occasional (29-5%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000187 | Broad alveolar ridges | Occasional (29-5%) |
| HP:0000189 | Narrow palate | Occasional (29-5%) |
| HP:0000200 | Short lingual frenulum | Occasional (29-5%) |
| HP:0000248 | Brachycephaly | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000269 | Prominent occiput | Occasional (29-5%) |
| HP:0000455 | Broad nasal tip | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000675 | Macrodontia of permanent maxillary central incisor | Occasional (29-5%) |
| HP:0000687 | Widely spaced teeth | Occasional (29-5%) |
| HP:0000696 | Delayed eruption of permanent teeth | Occasional (29-5%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0000851 | Congenital hypothyroidism | Occasional (29-5%) |
| HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
| HP:0001336 | Myoclonus | Occasional (29-5%) |
| HP:0001488 | Bilateral ptosis | Occasional (29-5%) |
| HP:0001719 | Double outlet right ventricle | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002098 | Respiratory distress | Occasional (29-5%) |
| HP:0004442 | Sagittal craniosynostosis | Occasional (29-5%) |
| HP:0005306 | Capillary hemangioma | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
| HP:0011951 | Aspiration pneumonia | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
| HP:0031282 | Malalignment of the great toenail | Occasional (29-5%) |
| HP:0031423 | Small cerebellar cortex | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Very rare (4-1%) |
| HP:0000126 | Hydronephrosis | Very rare (4-1%) |
| HP:0000218 | High palate | Very rare (4-1%) |
| HP:0000413 | Atresia of the external auditory canal | Very rare (4-1%) |
| HP:0000486 | Strabismus | Very rare (4-1%) |
| HP:0000518 | Cataract | Very rare (4-1%) |
| HP:0000878 | 11 pairs of ribs | Very rare (4-1%) |
| HP:0001305 | Dandy-Walker malformation | Very rare (4-1%) |
| HP:0001894 | Thrombocytosis | Very rare (4-1%) |
| HP:0002126 | Polymicrogyria | Very rare (4-1%) |
| HP:0002139 | Arrhinencephaly | Very rare (4-1%) |
| HP:0002937 | Hemivertebrae | Very rare (4-1%) |
| HP:0003298 | Spina bifida occulta | Very rare (4-1%) |
| HP:0004626 | Lumbar scoliosis | Very rare (4-1%) |
| HP:0006934 | Congenital nystagmus | Very rare (4-1%) |
| HP:0008110 | Equinovarus deformity | Very rare (4-1%) |
| HP:0008221 | Adrenal hyperplasia | Very rare (4-1%) |
| HP:0010497 | Sirenomelia | Very rare (4-1%) |
| HP:0011326 | Anterior plagiocephaly | Very rare (4-1%) |
| HP:0011409 | Abnormality of placental membranes | Very rare (4-1%) |
| HP:0012725 | Cutaneous syndactyly | Very rare (4-1%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 2 |
| HP:0000280 | Coarse facial features | 1 |
| HP:0000431 | Wide nasal bridge | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0007477 | Abnormal dermatoglyphics | 1 |
| HP:0008080 | Hallux varus | 1 |
| HP:0100790 | Hernia | 1 |