Clinical Signs and Symptoms
ORPHA:93970 Holmes-Gang syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Intellectual disability, severe HP:0010864
- Abnormal facial shape HP:0001999
- Absent speech HP:0001344
- Anteverted nares HP:0000463
- Bilateral talipes equinovarus HP:0001776
- Brisk reflexes HP:0001348
- Depressed nasal bridge HP:0005280
- Drooling HP:0002307
- Epicanthus HP:0000286
- Equinovarus deformity HP:0008110
- Facial hypotonia HP:0000297
- Feeding difficulties HP:0011968
- Gastroesophageal reflux HP:0002020
- Global developmental delay HP:0001263
- Hypertelorism HP:0000316
- Infantile muscular hypotonia HP:0008947
- Large forehead HP:0002003
- Microcephaly HP:0000252
- Short nose HP:0003196
- Short stature HP:0004322
- Wide anterior fontanel HP:0000260
- Abnormality of the dentition HP:0000164
- Bilateral renal hypoplasia HP:0012584
- Chronic constipation HP:0012450
- Everted lower lip vermilion HP:0000232
- Low-set ears HP:0000369
- Mandibular prognathia HP:0000303
- Oligohydramnios HP:0001562
- Short neck HP:0000470
- Short upper lip HP:0000188
- Stereotypy HP:0000733
- Thyroglossal cyst HP:0010518
- HbH hemoglobin HP:0011903
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.