| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
Show
|
| HP:0000194 | Open mouth | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000275 | Narrow face | |
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:0000366 | Abnormality of the nose | |
Show
|
| HP:0000400 | Large ears | |
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:0000490 | Deep set eyes | |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000602 | Ophthalmoplegia | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000717 | Autism | |
Show
|
| HP:0000733 | Stereotyped, repetitive behaviour | |
Show
|
| HP:0000748 | Inappropriate laughter | |
Show
|
| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
Show
|
| HP:0000774 | Narrow chest | |
Show
|
| HP:0001181 | Adducted thumbs | |
Show
|
| HP:0001238 | Slender fingers | "Digits are disproportionaly narrow (reduced girth)." [HPO:curators] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001272 | Cerebellar atrophy | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
Show
|
| HP:0001344 | Absent speech development | |
Show
|
| HP:0001371 | Contractures | |
Show
|
| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
Show
|
| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
Show
|
| HP:0002078 | Truncal ataxia | |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
Show
|
| HP:0002197 | Generalized seizures | "Recurrent generalized `seizures` (HP:0001250), that is seizures that affect both cerebral hemispheres from the start of the seizure, producing loss of consciousness." [HPO:probinson] |
Show
|
| HP:0002300 | Mutism | |
Show
|
| HP:0002307 | Drooling | |
Show
|
| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
Show
|
| HP:0002376 | Developmental regression | |
Show
|
| HP:0002487 | Hyperkinesis | |
Show
|
| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
Show
|
| HP:0002607 | Bowel incontinence | |
Show
|
| HP:0002804 | Arthrogryposis multiplex congenita | |
Show
|
| HP:0003189 | Long nose | |
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:0004325 | Decreased body weight | |
Show
|
| HP:0004326 | Cachexia | |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0006794 | Loss of ability to walk in first decade | |
Show
|
| HP:0006887 | Mental retardation, progressive | "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators] |
Show
|
| HP:0007207 | Seizures, tonic-clonic, photosensitive | |
Show
|
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
Show
|
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Show
|
| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
Show
|
| HP:0040082 | Happy demeanor | |
Show
|
| HP:0100024 | Conspicuously happy disposition | "An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger." [HPO:sdoelken] |
Show
|
| HP:0100613 | Death in early adulthood | |
Show
|
