| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
Show
|
| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [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:0000238 | Hydrocephalus | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
Show
|
| HP:0000437 | Flat nasal tip | |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000476 | Cystic hygroma of the neck | "A cystic lymphatic lesion of the neck." [HPO:curators] |
Show
|
| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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:0000883 | Thin ribs | |
Show
|
| HP:0001059 | Pterygia | "Pterygia are winglike triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:curators] |
Show
|
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | |
Show
|
| HP:0001196 | Short umbilical cord | |
Show
|
| HP:0001262 | Somnolence | |
Show
|
| HP:0001283 | Bulbar palsy | "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] |
Show
|
| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
Show
|
| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
Show
|
| HP:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001518 | Low birth weight | |
Show
|
| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| HP:0001622 | Premature birth | |
Show
|
| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
Show
|
| HP:0001838 | Vertical talus | |
Show
|
| HP:0001989 | Early severe fetal akinesia sequence | |
Show
|
| HP:0002089 | Pulmonary hypoplasia | |
Show
|
| HP:0002093 | Respiratory insufficiency | |
Show
|
| HP:0002304 | Akinesia | |
Show
|
| HP:0002375 | Hypokinesia | |
Show
|
| HP:0002389 | Cavum septum pellucidum | "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] |
Show
|
| HP:0002515 | Waddling gait | |
Show
|
| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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:0002715 | Immunological abnormality | |
Show
|
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
Show
|
| HP:0002804 | Arthrogryposis multiplex congenita | |
Show
|
| HP:0002828 | Multiple joint contractures | |
Show
|
| HP:0003070 | Elbow ankylosis | |
Show
|
| HP:0003100 | Thin long bones | |
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:0003473 | Mild-moderate fatigable weakness of limb muscles | |
Show
|
| HP:0003621 | Juvenile onset | |
Show
|
| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Show
|
| HP:0003700 | Generalized amyotrophy | "Generalized wasting of loss of muscle tissue." [HPO:curators] |
Show
|
| HP:0003826 | Stillborn or neonatal death | |
Show
|
| HP:0005245 | Hypoplastic intestines | |
Show
|
| HP:0005257 | Thoracic hypoplasia | |
Show
|
| HP:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0006266 | Small or abnormal placenta | |
Show
|
| HP:0007126 | Proximal amyotrophy | "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] |
Show
|
| HP:0008180 | Mildly elevated creatine phosphokinase | |
Show
|
| HP:0009487 | Ulnar deviation of the hand | "A deviation of the orientation of the hand in the direction of the ulna (i.e., towards the little finger)." [HPO:curators] |
Show
|
| HP:0010489 | Aplasia of the palmar creases | "Absence of the palmar creases." [HPO:curators] |
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:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
Show
|
| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
