| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
19108857 |
[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?]. Kechaou I, Rouissi A, Kraoua I, Regayeg A, Turki I, Ben Hamouda M, Gouider-Khouja N. Rev Neurol (Paris). 2009;165(12):1111-6. |
| Microcephaly | ||
| Anorexia Body Dysmorphic Disorders Child Differential Diagnosis Face Females Homo sapiens Intellectual Disability Male Syndrome Tuberculoma |
Total: 57
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0005432 | Transient hypogammaglobulinemia of infancy | Very frequent (99-80%) |
| HP:0000135 | Hypogonadism | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000340 | Sloping forehead | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000444 | Convex nasal ridge | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002654 | Multiple epiphyseal dysplasia | Frequent (79-30%) |
| HP:0002987 | Elbow flexion contracture | Frequent (79-30%) |
| HP:0003065 | Patellar hypoplasia | Frequent (79-30%) |
| HP:0004313 | Decreased antibody level in blood | Frequent (79-30%) |
| HP:0005001 | Recurrent patellar dislocation | Frequent (79-30%) |
| HP:0006380 | Knee flexion contracture | Frequent (79-30%) |
| HP:0012219 | Erythema nodosum | Frequent (79-30%) |
| HP:0012490 | Panniculitis | Frequent (79-30%) |
| HP:0040238 | Impaired neutrophil chemotaxis | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000455 | Broad nasal tip | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000510 | Rod-cone dystrophy | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000608 | Macular degeneration | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000670 | Carious teeth | Occasional (29-5%) |
| HP:0000692 | Misalignment of teeth | Occasional (29-5%) |
| HP:0000964 | Eczema | Occasional (29-5%) |
| HP:0001007 | Hirsutism | Occasional (29-5%) |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | Occasional (29-5%) |
| HP:0001583 | Rotary nystagmus | Occasional (29-5%) |
| HP:0001772 | Talipes equinovalgus | Occasional (29-5%) |
| HP:0002313 | Spastic paraparesis | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0002843 | Abnormal T cell morphology | Occasional (29-5%) |
| HP:0003487 | Babinski sign | Occasional (29-5%) |
| HP:0004315 | Decreased circulating IgG level | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005659 | Thoracic kyphoscoliosis | Occasional (29-5%) |
| HP:0006895 | Lower limb hypertonia | Occasional (29-5%) |
| HP:0007034 | Generalized hyperreflexia | Occasional (29-5%) |
| HP:0007105 | Infantile encephalopathy | Occasional (29-5%) |
| HP:0009553 | Abnormality of the hairline | Occasional (29-5%) |
| HP:0011431 | Fetal fifth finger clinodactyly | Occasional (29-5%) |
| HP:0011448 | Ankle clonus | Occasional (29-5%) |
| HP:0031008 | Lingual dystonia | Occasional (29-5%) |
| HP:0045075 | Sparse eyebrow | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|