| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.0%) |
9098491 |
Elejalde syndrome: a case report. Thornton CM, Stewart F. Am J Med Genet. 1997;69(4):406-8. |
| Short neck Postaxial polydactyly | ||
| Fatal Outcome Females Homo sapiens Infant, Newborn Syndrome | ||
| 2 (31.0%) |
8055141 |
An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia). Nevin NC, Herron B, Armstrong MJ. Clin Dysmorphol. 1994;3(2):180-4. |
| Postaxial polydactyly | ||
| Connective Tissue Craniosynostosis Edema Fetus Hand Homo sapiens Kidney Limb Deformities, Congenital Male Syndrome | ||
| 3 (4.0%) |
27416089 |
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. Galve J, Martin-Santiago A, Clavero C, Saus C, Alfaro-Arenas R, Perez-Granero A, Balliu PR, Ferrando J. Cutis. 2016;97(6):E1-5. |
| Hypothyroidism | ||
| Agammaglobulinemia Chromosome Aberrations Congenital Hypothyroidism Hair Diseases Homo sapiens Hydrops Fetalis Hypoproteinemia Infant Male Remission, Spontaneous | ||
| 3 (4.0%) |
26622160 (4639960) |
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. Raghuveer C, Murthy SC, Mithuna MN, Suresh T. Int J Trichology. 2015;7(3):133-5. |
| Recurrent respiratory infections | ||
| 3 (4.0%) |
25780981 |
Elejalde syndrome (ES). Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A. Dermatol Online J. 2015;21(3):. |
| Seizure | ||
| Child Differential Diagnosis Females Hair Homo sapiens Neurocutaneous Syndromes Pigmentation Disorders Seizures Sibling Skin | ||
| 3 (4.0%) |
23180914 (3500078) |
Silvery grey hair: clue to diagnose immunodeficiency. Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Int J Trichology. 2012;4(2):83-5. |
| Immunodeficiency | ||
| 3 (4.0%) |
22711375 |
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Cagdas D, Ozgur TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Eur J Pediatr. 2012;171(10):1527-31. |
| Nystagmus | ||
| Adaptor Proteins, Signal Transducing Child Child, Preschool Disease Progression Females Homo sapiens Infant Male Myosin Heavy Chains Myosin Type V Piebaldism Pigmentation Disorders rab GTP-Binding Proteins rab27 GTP-Binding Proteins | ||
| 3 (4.0%) |
22413886 |
Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family. Onyeama CO, Lotke M, Vickers D, Harper T. Fetal Pediatr Pathol. 2012;31(3):140-4. |
| Cryptorchidism | ||
| Homo sapiens Infant, Newborn Male Neurocutaneous Syndromes Pigmentation Disorders Sibling | ||
| 3 (4.0%) |
12522785 |
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. Aksu G, Kutukculer N, Genel F, Vergin C, Omowaire B. Am J Med Genet A. 2003;116A(4):329-33. |
| Hepatosplenomegaly | ||
| RAB27A | ||
| c|DEL|51|CT p|SUB|S|18|X | ||
| Child Females Hepatomegaly Homo sapiens Immunologic Deficiency Syndromes Phenotype Splenomegaly Syndrome rab GTP-Binding Proteins rab27 GTP-Binding Proteins |
Total: 19
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000153 | Abnormality of the mouth | Very frequent (99-80%) |
| HP:0000234 | Abnormality of the head | Very frequent (99-80%) |
| HP:0000263 | Oxycephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000476 | Cystic hygroma | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001433 | Hepatosplenomegaly | Very frequent (99-80%) |
| HP:0001538 | Protuberant abdomen | Very frequent (99-80%) |
| HP:0002816 | Genu recurvatum | Very frequent (99-80%) |
| HP:0003026 | Short long bone | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0005257 | Thoracic hypoplasia | Very frequent (99-80%) |
| HP:0005458 | Premature closure of fontanelles | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0009826 | Limb undergrowth | Very frequent (99-80%) |
| HP:0012210 | Abnormal renal morphology | Very frequent (99-80%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100259 | Postaxial polydactyly | 2 |
| HP:0000470 | Short neck | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000651 | Diplopia | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0007443 | Partial albinism | 1 |
| HP:0012156 | Hemophagocytosis | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|