| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
Show
|
| HP:0000276 | Long face | |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000467 | Neck muscle weakness | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000597 | Ophthalmoparesis | "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
Show
|
| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
Show
|
| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
Show
|
| HP:0001270 | Motor retardation | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
Show
|
| HP:0001612 | Weak cry | |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002515 | Waddling gait | |
Show
|
| HP:0002715 | Immunological abnormality | |
Show
|
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
Show
|
| HP:0002804 | Arthrogryposis multiplex congenita | |
Show
|
| HP:0003199 | Decreased muscle mass | |
Show
|
| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
Show
|
| HP:0003388 | Easy fatigability | |
Show
|
| HP:0003391 | Gower sign | "A phenomen whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] |
Show
|
| HP:0003394 | Muscle cramps | |
Show
|
| HP:0003403 | EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation | |
Show
|
| HP:0003443 | Muscle biopsy shows decreased size of nerve terminals | |
Show
|
| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
Show
|
| HP:0003554 | Type 2 muscle fiber atrophy | "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:curators] |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0003621 | Juvenile onset | |
Show
|
| HP:0003680 | Nonprogressive disorder | |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0007126 | Proximal amyotrophy | "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] |
Show
|
| HP:0008180 | Mildly elevated creatine phosphokinase | |
Show
|
| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
