| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000633 | Decreased lacrimation | Very frequent (99-80%) |
| HP:0000729 | Autistic behavior | Very frequent (99-80%) |
| HP:0000735 | Impaired social interactions | Very frequent (99-80%) |
| HP:0000824 | Growth hormone deficiency | Very frequent (99-80%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Very frequent (99-80%) |
| HP:0000961 | Cyanosis | Very frequent (99-80%) |
| HP:0000966 | Hypohidrosis | Very frequent (99-80%) |
| HP:0001513 | Obesity | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0002418 | Abnormality of midbrain morphology | Very frequent (99-80%) |
| HP:0002459 | obsolete Dysautonomia | Very frequent (99-80%) |
| HP:0002591 | Polyphagia | Very frequent (99-80%) |
| HP:0002791 | Hypoventilation | Very frequent (99-80%) |
| HP:0002902 | Hyponatremia | Very frequent (99-80%) |
| HP:0002910 | Elevated hepatic transaminase | Very frequent (99-80%) |
| HP:0003074 | Hyperglycemia | Very frequent (99-80%) |
| HP:0003077 | Hyperlipidemia | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0007110 | Central hypoventilation | Very frequent (99-80%) |
| HP:0008213 | Gonadotropin deficiency | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0011787 | Central hypothyroidism | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012412 | Premature adrenarche | Very frequent (99-80%) |
| HP:0012704 | Widened subarachnoid space | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000718 | Aggressive behavior | Frequent (79-30%) |
| HP:0000863 | Central diabetes insipidus | Frequent (79-30%) |
| HP:0000870 | Prolactin excess | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001945 | Fever | Frequent (79-30%) |
| HP:0001959 | Polydipsia | Frequent (79-30%) |
| HP:0002045 | Hypothermia | Frequent (79-30%) |
| HP:0002099 | Asthma | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0002579 | Gastrointestinal dysmotility | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002783 | Recurrent lower respiratory tract infections | Frequent (79-30%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Frequent (79-30%) |
| HP:0002870 | Obstructive sleep apnea | Frequent (79-30%) |
| HP:0003005 | Ganglioneuroma | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005616 | Accelerated skeletal maturation | Frequent (79-30%) |
| HP:0006747 | Ganglioneuroblastoma | Frequent (79-30%) |
| HP:0007328 | Impaired pain sensation | Frequent (79-30%) |
| HP:0007695 | Abnormal pupillary light reflex | Frequent (79-30%) |
| HP:0011748 | Adrenocorticotropic hormone deficiency | Frequent (79-30%) |
| HP:0000709 | Psychosis | Occasional (29-5%) |
| HP:0000712 | Emotional lability | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0000722 | Obsessive-compulsive behavior | Occasional (29-5%) |
| HP:0000805 | Enuresis | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001290 | Generalized hypotonia | Occasional (29-5%) |
| HP:0002383 | Encephalitis | Occasional (29-5%) |
| HP:0002608 | Celiac disease | Occasional (29-5%) |
| HP:0006543 | Cardiorespiratory arrest | Occasional (29-5%) |
| HP:0030050 | Narcolepsy | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
| HP:0000739 | Anxiety | Excluded (0%) |
| HP:0002153 | Hyperkalemia | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|