| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.9%) |
9728826 |
Delleman syndrome: anesthetic implications. Sadhasivam S, Subramaniam R. Anesth Analg. 1998;87(3):553-5. |
| Orbital cyst Hemiatrophy | ||
| Homo sapiens Infant Male Syndrome | ||
| 2 (57.8%) |
8160751 |
Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. Leichtman LG, Wood B, Rohn R. Am J Med Genet. 1994;50(1):39-41. |
| Macrocephaly Micrognathia | ||
| Anophthalmos Central Nervous System Cleft Palate Face Females Homo sapiens Infant, Newborn | ||
| 3 (46.5%) |
14699622 |
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB. Am J Med Genet A. 2004;124A(2):202-8. |
| Macrocephaly Lip pit | ||
| Brain Females Focal Dermal Hypoplasia Homo sapiens Optic Disk Polydactyly Syndactyly Syndrome Toes | ||
| 4 (39.6%) |
9009364 |
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. Narbay G, Meire F, Verloes A, Casteels I, Devos E. Bull Soc Belge Ophtalmol. 1996;261:65-70. |
| Microphthalmia Eyelid coloboma | ||
| Brain Child, Preschool Eye Abnormalities Face Homo sapiens Infant, Newborn Male Syndrome | ||
| 5 (39.0%) |
15776323 |
Oculocerebrocutaneous (Delleman) syndrome: report of two cases. Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Lapunzina P. Neuropediatrics. 2005;36(1):50-4. |
| Dandy-Walker malformation | ||
| FGFR1 | ||
| Child Child, Preschool Eye Abnormalities Females Homo sapiens Magnetic Resonance Imaging Male Oculocerebrorenal Syndrome Skin Abnormalities | ||
| 5 (39.0%) |
12823300 |
Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M. Clin Exp Dermatol. 2003;28(4):387-90. |
| Cranial asymmetry | ||
| Biopsy Conjunctival Diseases Differential Diagnosis Eyelid Diseases Females Hamartoma Syndrome, Multiple Homo sapiens Infant, Newborn Lipomatosis Magnetic Resonance Imaging Neurocutaneous Syndromes Scalp Dermatoses | ||
| 7 (32.1%) |
8188932 |
Clinical and histologic features of striated muscle hamartoma: possible relationship to Delleman's syndrome. Sanchez RL, Raimer SS. J Cutan Pathol. 1994;21(1):40-6. |
| Low-set ears Cleft lip | ||
| Child Females Hamartoma Homo sapiens Infant, Newborn Male Middle Aged Muscle Tissue Syndrome | ||
| 8 (29.2%) |
30627696 |
Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: a case report. Badejo OA, Fasina O, Balogun JA, Ogunbiyi JO, Shokunbi MT. Ther Adv Ophthalmol. 2018;10:2515841418817486. |
| Orbital cyst | ||
| 8 (29.2%) |
25624688 (4302468) |
Delleman Oorthuys syndrome. Rizvi SW, Siddiqui MA, Khan AA, Siddiqui Z. Middle East Afr J Ophthalmol. 2015;22(1):122-4. |
| Anophthalmia Orbital cyst | ||
| Arachnoid Cysts Central Nervous System Cysts Cyst Eye Abnormalities Fingers Homo sapiens Infant Magnetic Resonance Imaging Male Skin Abnormalities | ||
| 8 (29.2%) |
19700879 (2804129) |
Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'. Arora V, Kim UR, Khazei HM. Indian J Ophthalmol. 2009;57(5):387-9. |
| Orbital cyst | ||
| Differential Diagnosis Eye Abnormalities Follow-Up Studies Homo sapiens Infant, Newborn Male Skin Abnormalities Syndrome X-Ray Computed Tomography |
Total: 40
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000384 | Preauricular skin tag | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001321 | Cerebellar hypoplasia | Very frequent (99-80%) |
| HP:0002126 | Polymicrogyria | Very frequent (99-80%) |
| HP:0002334 | Abnormality of the cerebellar vermis | Very frequent (99-80%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Very frequent (99-80%) |
| HP:0010609 | Skin tags | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000625 | Eyelid coloboma | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0001053 | Hypopigmented skin patches | Frequent (79-30%) |
| HP:0001362 | Calvarial skull defect | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0004374 | Hemiplegia/hemiparesis | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001231 | Abnormal fingernail morphology | Occasional (29-5%) |
| HP:0001260 | Dysarthria | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002006 | Facial cleft | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007957 | Corneal opacity | Occasional (29-5%) |
| HP:0008572 | External ear malformation | Occasional (29-5%) |
| HP:0009882 | Short distal phalanx of finger | Occasional (29-5%) |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | Occasional (29-5%) |
| HP:0100777 | Exostoses | Occasional (29-5%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000568 | Microphthalmia | 7 |
| HP:0001144 | Orbital cyst | 6 |
| HP:0000528 | Anophthalmia | 4 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0010609 | Skin tags | 2 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0002209 | Sparse scalp hair | 1 |
| HP:0010815 | Nevus sebaceous | 1 |
| HP:0010817 | Linear nevus sebaceous | 1 |
| HP:0030724 | Central nervous system cyst | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|