- Intraalveolar phospholipid accumulation (HP:0006517): Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. Evidence: PCS. (PMID:18955570)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/2. (PMID:18955570)
- Reduced forced vital capacity (HP:0032341): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: PCS. Frequency: 1/2. Onset: Juvenile onset (HP:0003621). (PMID:18955570)
- Ground-glass opacification (HP:0025179): On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. Evidence: PCS. Frequency: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:18955570)
- Reduced forced expiratory volume in one second (HP:0032342): An abnormal reduction in the amount of air a person can forcefully expel in one second. Evidence: PCS. Frequency: 1/2. Onset: Juvenile onset (HP:0003621). (PMID:18955570)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:18955570)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. (PMID:18955570)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. (PMID:18955570)
- Decreased DLCO (HP:0045051): Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:18955570)
These phenotypes are associated with the disease surfactant metabolism dysfunction, pulmonary, 4 (OMIM:300770).