| HP:0000219 | Thin upper lip | |
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:0000276 | Long face | |
Show
|
| HP:0000307 | Pointed chin | |
Show
|
| HP:0000308 | Microretrognathia | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
Show
|
| HP:0000389 | Chronic otitis media | |
Show
|
| HP:0000391 | Thickened helices | |
Show
|
| HP:0000400 | Large ears | |
Show
|
| HP:0000411 | Protruding ears | |
Show
|
| HP:0000414 | Bulbous nose | |
Show
|
| HP:0000437 | Flat nasal tip | |
Show
|
| HP:0000455 | Broad nasal tip | |
Show
|
| HP:0000470 | Short neck | |
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:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000579 | Nasolacrimal duct obstruction | |
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:0000643 | Blepharospasm | "An involuntary recurrent spasm of both eyelids." [HPO:curators] |
Show
|
| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
Show
|
| HP:0000729 | Pervasive developmental disorder | |
Show
|
| HP:0000739 | Anxiety | |
Show
|
| HP:0000750 | Impaired language development | |
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:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
Show
|
| HP:0000960 | Sacral dimple | "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] |
Show
|
| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
Show
|
| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
Show
|
| HP:0001057 | Aplasia cutis congenita | "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [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:0001264 | Spastic diplegia | "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] |
Show
|
| HP:0001272 | Cerebellar atrophy | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001304 | Torsion dystonia | |
Show
|
| HP:0001315 | Reduced reflexes | |
Show
|
| HP:0001320 | Cerebellar vermis hypoplasia | |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
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:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
Show
|
| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
Show
|
| HP:0001385 | Hip dysplasia | |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators] |
Show
|
| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002141 | Gait imbalance | |
Show
|
| HP:0002172 | Postural instability | |
Show
|
| HP:0002194 | Delayed gross motor development | |
Show
|
| HP:0002322 | Resting tremor | "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators] |
Show
|
| HP:0002355 | Difficulty walking | |
Show
|
| HP:0002359 | Frequent falls | |
Show
|
| HP:0002362 | Shuffling gait | |
Show
|
| HP:0002378 | Hand tremor | |
Show
|
| HP:0002451 | Limb dystonia | |
Show
|
| HP:0002548 | Favorable response to levodopa | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0003581 | Onset in adulthood | |
Show
|
| HP:0004696 | talipes cavus equinovarus | |
Show
|
| HP:0005469 | Occipital plagiocephaly | "Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone." [HPO:curators] |
Show
|
| HP:0006511 | Laryngeal stridor | |
Show
|
| HP:0006979 | Sleep-wake cycle disturbance | |
Show
|
| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
Show
|
| HP:0007158 | Progressive extrapyramidal rigidity | |
Show
|
| HP:0007375 | Abnormality of the septum pellucidum | "Abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [HPO:curators] |
Show
|
| HP:0008070 | Sparse hair | |
Show
|
| HP:0008472 | Prominent protruding coccyx | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0009894 | Thickened ears | |
Show
|
| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] |
Show
|
| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
Show
|
| HP:0011410 | Caesarian section | |
Show
|
| HP:0011822 | Broad chin | "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [pmid:19125436] |
Show
|
| HP:0011927 | Short digit | "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson] |
Show
|
| HP:0011951 | Aspiration pneumonia | "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] |
Show
|
| HP:0031162 | Impaired oropharyngeal swallow response | "Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars." [PMID:27785002] |
Show
|
| HP:0040016 | Prominent coccyx | |
Show
|
| HP:0100797 | Toenail dysplasia | "An abnormality of the development of the toenails." [HPO:probinson] |
Show
|
| HP:0200136 | Oral-pharyngeal dysphagia | |
Show
|
