| 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] |
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| 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] |
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| HP:0000054 | Micropenis | |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000233 | Thin vermillion border | |
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| 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] |
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| HP:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
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| HP:0000293 | Full cheeks | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| 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] |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| 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] |
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| HP:0000444 | Beaked nose | |
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| HP:0000483 | Astigmatism | |
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| HP:0000490 | Deep set eyes | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000670 | Carious teeth | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000883 | Thin ribs | |
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| HP:0000890 | Long clavicles | |
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| HP:0001249 | Mental retardation | |
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| 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] |
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| 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] |
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| 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] |
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| 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] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001281 | Tetany | |
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| HP:0001298 | Encephalopathy | |
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| HP:0001476 | Delayed closure of the anterior fontanelle | "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002199 | Seizures due to hypocalcemia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003100 | Thin long bones | |
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| HP:0003198 | Myopathy | |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003472 | Hypocalcemic tetany | |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003508 | Proportionate short stature | "Short stature affecting the trunk and the limbs proportionately." [HPO:curators] |
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| HP:0003561 | Birth length <3rd percentile | |
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| HP:0003593 | Early onset | |
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| HP:0003676 | Progressive disorder | |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005374 | Cellular immunodeficiency | |
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| HP:0005450 | Calvarial osteosclerosis | "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] |
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| HP:0005686 | Patchy osteosclerosis | "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] |
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| HP:0005791 | Cortical thickening of long bone diaphyses | "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] |
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| HP:0006470 | Thin diaphyses of long bones | |
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| HP:0006645 | Thin, long clavicles | |
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| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
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| HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
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| HP:0008198 | Congenital hypoparathyroidism | |
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| HP:0008572 | External ear malformation | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008846 | Severe intrauterine growth retardation | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0012448 | Delayed myelination | "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." [ORCID:0000-0001-5208-3432] |
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| HP:0100254 | Stenosis of the medullary cavity of the long bones | |
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| HP:0200055 | Small hands | |
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