Phenotypes associated with the disease Gaucher disease perinatal lethal (OMIM:608013, an entry in Online Mendelian Inheritance in Man):
- Progressive neurologic deterioration (HP:0002344, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:608013)
- Decreased body weight (HP:0004325, a Human Phenotype Ontology term): Abnormally low body weight. Evidence: PCS. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:10352942)
- Everted upper lip vermilion (HP:0010803, a Human Phenotype Ontology term): Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. Evidence: TAS. (OMIM:608013)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:608013)
- Thoracic hypoplasia (HP:0005257, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:608013)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:608013)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: IEA. (OMIM:608013)
- Short nose (HP:0003196, a Human Phenotype Ontology term): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: IEA. (OMIM:608013)
- Fetal onset (HP:0011461, a Human Phenotype Ontology term): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:608013)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:608013)
- Desquamation of skin soon after birth (HP:0007549, a Human Phenotype Ontology term). Evidence: IEA. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (OMIM:608013)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:608013)
- Ascites (HP:0001541, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. (OMIM:608013)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:8929950)
- Petechiae (HP:0000967, a Human Phenotype Ontology term): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: IEA. (OMIM:608013)
- Akinesia (HP:0002304, a Human Phenotype Ontology term): Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. Evidence: IEA. (OMIM:608013)
- Congenital nonbullous ichthyosiform erythroderma (HP:0007479, a Human Phenotype Ontology term): The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. Evidence: PCS. Frequency: 6/6. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:10685993)
- Apnea (HP:0002104, a Human Phenotype Ontology term): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: IEA. (OMIM:608013)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:608013)
- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: IEA. (OMIM:608013)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: IEA. (OMIM:608013)
- Hepatic failure (HP:0001399, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:608013)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: IEA. (OMIM:608013)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Nonimmune hydrops fetalis (HP:0001790, a Human Phenotype Ontology term): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:608013)
- Purpura (HP:0000979, a Human Phenotype Ontology term): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: IEA. (OMIM:608013)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: TAS. (OMIM:608013)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: TAS. (OMIM:608013)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. (OMIM:608013)
- Opisthotonus (HP:0002179, a Human Phenotype Ontology term): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: IEA. (OMIM:608013)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: IEA. (OMIM:608013)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. (PMID:3415310)
- Hypokinesia (HP:0002375, a Human Phenotype Ontology term): Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. Evidence: IEA. (OMIM:608013)
- Cardiomegaly (HP:0001640, a Human Phenotype Ontology term): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: IEA. (OMIM:608013)
- Everted lower lip vermilion (HP:0000232, a Human Phenotype Ontology term): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. (OMIM:608013)
- Open mouth (HP:0000194, a Human Phenotype Ontology term): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: IEA. (OMIM:608013)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: IEA. (OMIM:608013)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:608013)
- Ichthyosis (HP:0008064, a Human Phenotype Ontology term): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. (OMIM:608013)
- Arthrogryposis multiplex congenita (HP:0002804, a Human Phenotype Ontology term): Multiple congenital contractures in different body areas. Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Decreased fetal movement (HP:0001558, a Human Phenotype Ontology term): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Apathy (HP:0000741, a Human Phenotype Ontology term): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: IEA. (OMIM:608013)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:608013)
- Neonatal death (HP:0003811, a Human Phenotype Ontology term): Death within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:8929950)
- Hepatosplenomegaly (HP:0001433, a Human Phenotype Ontology term): Simultaneous enlargement of the liver and spleen. Evidence: PCS. (PMID:10649495)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:608013)